ClinVar Miner

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

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Total variants: 42
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HGVS dbSNP
NM_000329.3(RPE65):c.1034A>G (p.Asn345Ser)
NM_000329.3(RPE65):c.106C>T (p.Leu36Phe)
NM_000329.3(RPE65):c.1070C>A (p.Ala357Asp)
NM_000329.3(RPE65):c.1098G>C (p.Arg366Ser)
NM_000329.3(RPE65):c.1169C>T (p.Thr390Ile)
NM_000329.3(RPE65):c.1195G>A (p.Glu399Lys)
NM_000329.3(RPE65):c.1237C>T (p.Arg413Cys) rs369142161
NM_000329.3(RPE65):c.124C>T (p.Leu42Phe)
NM_000329.3(RPE65):c.1298A>G (p.Tyr433Cys)
NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu)
NM_000329.3(RPE65):c.1322A>G (p.His441Arg)
NM_000329.3(RPE65):c.1338+3A>T
NM_000329.3(RPE65):c.1339-4A>G
NM_000329.3(RPE65):c.1409C>A (p.Pro470His)
NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly) rs1571158279
NM_000329.3(RPE65):c.1449T>C (p.Asp483=)
NM_000329.3(RPE65):c.1519G>T (p.Ala507Ser)
NM_000329.3(RPE65):c.1533T>G (p.Ser511Arg)
NM_000329.3(RPE65):c.1559T>C (p.Ile520Thr) rs281865291
NM_000329.3(RPE65):c.1582G>A (p.Gly528Arg)
NM_000329.3(RPE65):c.1597T>A (p.Ser533Thr)
NM_000329.3(RPE65):c.215T>C (p.Phe72Ser) rs1553153597
NM_000329.3(RPE65):c.268G>A (p.Val90Ile)
NM_000329.3(RPE65):c.298A>C (p.Ile100Leu)
NM_000329.3(RPE65):c.308T>C (p.Phe103Ser)
NM_000329.3(RPE65):c.314C>A (p.Thr105Asn)
NM_000329.3(RPE65):c.400_402del (p.Val134del)
NM_000329.3(RPE65):c.433G>A (p.Ala145Thr)
NM_000329.3(RPE65):c.484A>C (p.Thr162Pro)
NM_000329.3(RPE65):c.536C>T (p.Ala179Val)
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr) rs768445391
NM_000329.3(RPE65):c.676G>A (p.Val226Ile)
NM_000329.3(RPE65):c.718G>T (p.Val240Phe) rs192907397
NM_000329.3(RPE65):c.743A>G (p.Asn248Ser)
NM_000329.3(RPE65):c.744C>A (p.Asn248Lys)
NM_000329.3(RPE65):c.751G>A (p.Val251Ile)
NM_000329.3(RPE65):c.7A>G (p.Ile3Val)
NM_000329.3(RPE65):c.874G>A (p.Ala292Thr)
NM_000329.3(RPE65):c.902A>G (p.Asn301Ser)
NM_000329.3(RPE65):c.917C>T (p.Thr306Ile)
NM_000329.3(RPE65):c.953A>G (p.Tyr318Cys)
NM_000329.3(RPE65):c.975T>G (p.Ile325Met) rs761227832

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