ClinVar Miner

List of variants in gene RPGRIP1 studied for Leber congenital amaurosis 1

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_020366.3(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020366.3(RPGRIP1):c.1116del (p.Lys372fs) rs776880045
NM_020366.3(RPGRIP1):c.1611G>A (p.Gln537=) rs1064797181
NM_020366.3(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259
NM_020366.3(RPGRIP1):c.1793G>A (p.Arg598Gln) rs74034910
NM_020366.3(RPGRIP1):c.194G>A (p.Trp65Ter) rs137853124
NM_020366.3(RPGRIP1):c.2012G>A (p.Gly671Glu) rs1348186141
NM_020366.3(RPGRIP1):c.2368-2A>G rs1064797182
NM_020366.3(RPGRIP1):c.2417C>T (p.Thr806Ile) rs142796310
NM_020366.3(RPGRIP1):c.2440C>T (p.Arg814Ter) rs759940113
NM_020366.3(RPGRIP1):c.2468A>G (p.Tyr823Cys) rs751521888
NM_020366.3(RPGRIP1):c.2759_2760insT (p.Gln920fs) rs61751270
NM_020366.3(RPGRIP1):c.2775G>A (p.Trp925Ter) rs398124354
NM_020366.3(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159
NM_020366.3(RPGRIP1):c.3120G>A (p.Trp1040Ter) rs1555303320
NM_020366.3(RPGRIP1):c.3339+5G>A rs1057518122
NM_020366.3(RPGRIP1):c.3748+17dup rs578107768
NM_020366.3(RPGRIP1):c.564A>G (p.Glu188=) rs574462207
NM_020366.3(RPGRIP1):c.800+1G>A rs376500610
NM_020366.3(RPGRIP1):c.800G>A (p.Arg267Gln) rs758239674
Single allele

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