ClinVar Miner

List of variants reported as pathogenic for Leber congenital amaurosis 6 by Laboratory of Genetics in Ophthalmology, Institut Imagine

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter) rs192003551 0.00004
NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter) rs1429786931 0.00001
NM_020366.4(RPGRIP1):c.2895+1G>T rs748072501 0.00001
NM_020366.4(RPGRIP1):c.3565C>T (p.Arg1189Ter) rs752175052 0.00001
NM_020366.3:c.(930+1_931-1)_(1151+1_1152-1)del
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020366.4(RPGRIP1):c.1116del (p.Lys372fs) rs776880045
NM_020366.4(RPGRIP1):c.1133dup (p.Tyr378Ter) rs1391335025
NM_020366.4(RPGRIP1):c.1447C>T (p.Gln483Ter) rs368781265
NM_020366.4(RPGRIP1):c.1611G>A (p.Gln537=) rs1064797181
NM_020366.4(RPGRIP1):c.1687C>T (p.Arg563Ter) rs776963292
NM_020366.4(RPGRIP1):c.2086G>T (p.Glu696Ter) rs1882904268
NM_020366.4(RPGRIP1):c.2239del (p.Val747fs) rs1882946937
NM_020366.4(RPGRIP1):c.2367+23del rs781728563
NM_020366.4(RPGRIP1):c.2567_2568dup (p.Val857fs) rs1555302200
NM_020366.4(RPGRIP1):c.2710+1G>A rs1883084009
NM_020366.4(RPGRIP1):c.2718dup (p.Asn907Ter) rs776289402
NM_020366.4(RPGRIP1):c.2876del (p.Lys959fs) rs786205623
NM_020366.4(RPGRIP1):c.2890del (p.Ser964fs) rs1555302710
NM_020366.4(RPGRIP1):c.2895+1G>A rs748072501
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159
NM_020366.4(RPGRIP1):c.3239-1_3241del rs1884133804
NM_020366.4(RPGRIP1):c.3339+2477_3533-151del
NM_020366.4(RPGRIP1):c.3427del (p.Tyr1143fs) rs1885186332
NM_020366.4(RPGRIP1):c.3629_3630insG (p.Val1211fs) rs1885757549
NM_020366.4(RPGRIP1):c.511del (p.Tyr171fs) rs61751265
NM_020366.4(RPGRIP1):c.832C>T (p.Arg278Ter) rs587783018
NM_020366.4(RPGRIP1):c.895_896del (p.Glu299fs) rs1594180177

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