Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057517966
rs1057517966
MITF
0.925 0.160 3 69959325 stop gained C/T snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs1057517966
rs1057517966
MITF
0.925 0.160 3 69959325 stop gained C/T snv
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		0.700 0
dbSNP: rs1057518765
rs1057518765
MITF
1.000 0.040 3 69949082 missense variant A/G snv 4.0E-06
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.700 0
dbSNP: rs1057519325
rs1057519325
MITF
0.925 0.040 3 69951870 missense variant G/C snv
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1057519326
rs1057519326
MITF
0.925 0.040 3 69956469 missense variant A/G snv
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1057519327
rs1057519327
MITF
0.925 0.040 3 69956454 splice acceptor variant G/A snv
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1057519327
rs1057519327
MITF
0.925 0.040 3 69956454 splice acceptor variant G/A snv
CUI: C4310625
Disease: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 		0.700 0
dbSNP: rs1236436555
rs1236436555
MITF
1.000 0.040 3 69936760 splice region variant G/C snv 7.0E-06
CUI: C2700265
Disease: Waardenburg Syndrome Type 2
Waardenburg Syndrome Type 2 		0.700 0
dbSNP: rs147682682
rs147682682
MITF
1.000 0.040 3 69956496 stop gained G/A;T snv 1.2E-05 1.4E-05
CUI: C0423318
Disease: Heterochromia iridis
Heterochromia iridis 		0.700 0
dbSNP: rs147682682
rs147682682
MITF
1.000 0.040 3 69956496 stop gained G/A;T snv 1.2E-05 1.4E-05
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs147682682
rs147682682
MITF
1.000 0.040 3 69956496 stop gained G/A;T snv 1.2E-05 1.4E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs147682682
rs147682682
MITF
1.000 0.040 3 69956496 stop gained G/A;T snv 1.2E-05 1.4E-05
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1553701477
rs1553701477
MITF
1.000 0.040 3 69936756 splice donor variant G/A snv
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1553702406
rs1553702406
MITF
1.000 0.040 3 69941299 missense variant TT/CC mnv
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1553703612
rs1553703612
MITF
1.000 0.040 3 69949049 splice acceptor variant A/C snv
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1553704086
rs1553704086
MITF
0.925 0.280 3 69951856 missense variant G/A snv
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		0.700 0
dbSNP: rs1553704086
rs1553704086
MITF
0.925 0.280 3 69951856 missense variant G/A snv
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1553704097
rs1553704097
MITF
1.000 0.040 3 69951884 missense variant T/C snv
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1553704814
rs1553704814
MITF
0.882 0.280 3 69956461 inframe deletion AGA/- delins
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		0.700 0
dbSNP: rs1553704814
rs1553704814
MITF
0.882 0.280 3 69956461 inframe deletion AGA/- delins
CUI: C4310625
Disease: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 		0.700 0
dbSNP: rs1553704850
rs1553704850
MITF
1.000 0.040 3 69956534 splice region variant A/C snv
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1553705282
rs1553705282
MITF
1.000 0.040 3 69959386 frameshift variant A/- del
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1559749017
rs1559749017
MITF
0.925 0.040 3 69956531 splice donor variant G/A snv
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1559749017
rs1559749017
MITF
0.925 0.040 3 69956531 splice donor variant G/A snv
CUI: C0423318
Disease: Heterochromia iridis
Heterochromia iridis 		0.700 0
dbSNP: rs1559749017
rs1559749017
MITF
0.925 0.040 3 69956531 splice donor variant G/A snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0