Gene: RPGRIP1 ×
Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555302200
rs1555302200
RPGRIP1
4 0.925 0.120 14 21326029 frameshift variant -/TT delins 0.700 0
dbSNP: rs577932201
rs577932201
RPGRIP1
1 14 21325330 stop gained C/G;T snv 8.7E-06 0.700 0
dbSNP: rs878853389
rs878853389
RPGRIP1
1 14 21326071 frameshift variant -/A ins 0.700 0
dbSNP: rs878853390
rs878853390
RPGRIP1
1 14 21324862 frameshift variant T/- del 0.700 0
dbSNP: rs878853391
rs878853391
RPGRIP1
1 14 21320155 stop gained T/A snv 0.700 0
dbSNP: rs878853392
rs878853392
RPGRIP1
1 14 21317847 stop gained A/T snv 0.700 0