ClinVar Miner

List of variants reported as likely pathogenic for Leber congenital amaurosis 2; Retinitis pigmentosa 20 by Invitae

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000329.3(RPE65):c.433G>A (p.Ala145Thr) rs767528365 0.00012
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr) rs768445391 0.00004
NM_000329.3(RPE65):c.11+2T>G rs778768116 0.00001
NM_000329.3(RPE65):c.235T>C (p.Tyr79His) rs61752869 0.00001
NM_000329.3(RPE65):c.329A>G (p.Asp110Gly) rs1571170561 0.00001
NM_000329.3(RPE65):c.484A>C (p.Thr162Pro) rs774309607 0.00001
NM_000329.3(RPE65):c.938A>G (p.His313Arg) rs1375943362 0.00001
NM_000329.3(RPE65):c.1040G>A (p.Arg347His) rs562037932
NM_000329.3(RPE65):c.119G>A (p.Gly40Asp)
NM_000329.3(RPE65):c.12-1G>C rs1348031618
NM_000329.3(RPE65):c.12-2A>T
NM_000329.3(RPE65):c.1243+1G>A rs1421696563
NM_000329.3(RPE65):c.1243+1G>C
NM_000329.3(RPE65):c.1250A>G (p.Glu417Gly)
NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu) rs34627040
NM_000329.3(RPE65):c.1339-2A>G
NM_000329.3(RPE65):c.1399C>A (p.Pro467Thr) rs1395763356
NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser) rs1395763356
NM_000329.3(RPE65):c.1404_1413del (p.Glu469fs) rs2100806889
NM_000329.3(RPE65):c.310G>A (p.Gly104Ser)
NM_000329.3(RPE65):c.354-1G>A rs2100827985
NM_000329.3(RPE65):c.354-1G>T rs2100827985
NM_000329.3(RPE65):c.354-2del rs2100827990
NM_000329.3(RPE65):c.496-1G>A rs2100821984
NM_000329.3(RPE65):c.643+2T>A rs1645896934
NM_000329.3(RPE65):c.644-2A>G
NM_000329.3(RPE65):c.718G>T (p.Val240Phe) rs192907397
NM_000329.3(RPE65):c.859-2A>C

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