CLCN5, chloride voltage-gated channel 5, 1184

N. diseases: 101; N. variants: 37
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1569540047
rs1569540047 		1.000 0.120 X 50072517 stop gained G/A snv
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2004 2004
dbSNP: rs797044813
rs797044813 		1.000 0.120 X 50090490 stop gained C/T snv
CUI: C0018965
Disease: Hematuria
Hematuria 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2005 2005
dbSNP: rs797044815
rs797044815 		1.000 0.120 X 50092157 frameshift variant TGTTAAAGCATATAGCACAGATG/- delins
CUI: C0878681
Disease: Dent's disease
Dent's disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2000 2000
dbSNP: rs1049618423
rs1049618423 		1.000 0.120 X 50070007 stop gained C/G;T snv
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs151340620
rs151340620 		0.925 0.120 X 50086360 stop gained G/A snv
CUI: C1839874
Disease: Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs151340620
rs151340620 		0.925 0.120 X 50086360 stop gained G/A snv
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs151340624
rs151340624 		0.851 0.120 X 50090846 stop gained C/T snv
CUI: C4016445
Disease: NEPHROLITHIASIS, X-LINKED RECESSIVE
NEPHROLITHIASIS, X-LINKED RECESSIVE 		0.700 0
dbSNP: rs151340625
rs151340625 		0.925 0.120 X 50088867 missense variant G/A snv
CUI: C4016445
Disease: NEPHROLITHIASIS, X-LINKED RECESSIVE
NEPHROLITHIASIS, X-LINKED RECESSIVE 		0.700 0
dbSNP: rs151340629
rs151340629 		0.925 0.120 X 50072553 missense variant G/T snv
CUI: C4016445
Disease: NEPHROLITHIASIS, X-LINKED RECESSIVE
NEPHROLITHIASIS, X-LINKED RECESSIVE 		0.700 0
dbSNP: rs151340630
rs151340630 		0.925 0.120 X 50086035 missense variant G/T snv
CUI: C0878681
Disease: Dent's disease
Dent's disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1557192084
rs1557192084 		1.000 0.120 X 50075954 stop gained G/A snv
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1557194353
rs1557194353 		1.000 0.120 X 50088816 stop gained G/A snv
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1569540369
rs1569540369 		1.000 0.120 X 50086709 missense variant G/C snv
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1569540382
rs1569540382 		1.000 0.120 X 50086871 splice donor variant G/T snv
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1569540520
rs1569540520 		1.000 0.120 X 50090819 frameshift variant C/- delins
CUI: C1839874
Disease: Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs273585644
rs273585644 		1.000 0.120 X 50086338 missense variant A/G snv
CUI: C0878681
Disease: Dent's disease
Dent's disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs273585645
rs273585645 		1.000 0.120 X 50081798 missense variant T/C snv
CUI: C0878681
Disease: Dent's disease
Dent's disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs273585646
rs273585646 		1.000 0.120 X 50086543 missense variant C/A snv
CUI: C0878681
Disease: Dent's disease
Dent's disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs273585647
rs273585647 		1.000 0.120 X 50090118 missense variant G/A snv
CUI: C0878681
Disease: Dent's disease
Dent's disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs273585648
rs273585648 		1.000 0.120 X 50086357 missense variant G/C snv
CUI: C0878681
Disease: Dent's disease
Dent's disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs273585649
rs273585649 		1.000 0.120 X 50090218 missense variant A/G snv
CUI: C0878681
Disease: Dent's disease
Dent's disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs273585650
rs273585650 		0.925 0.120 X 50090220 missense variant T/G snv
CUI: C0878681
Disease: Dent's disease
Dent's disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs151340627
rs151340627 		0.882 0.160 X 50086551 stop gained G/A snv
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 1998 1998
dbSNP: rs151340627
rs151340627 		0.882 0.160 X 50086551 stop gained G/A snv
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 1998 1998
dbSNP: rs151340627
rs151340627 		0.882 0.160 X 50086551 stop gained G/A snv
CUI: C1839874
Disease: Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0