ClinVar Miner

List of variants reported as likely pathogenic for Leber congenital amaurosis 1

Included ClinVar conditions (6):
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Total variants: 37
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HGVS dbSNP
NC_000004.12:g.154744366G>T
NM_000180.3(GUCY2D):c.1040_1041delTT (p.Phe347Trpfs) rs763890649
NM_000180.3(GUCY2D):c.1433_1442dup (p.Phe482Glyfs)
NM_000180.3(GUCY2D):c.1956+2T>A rs61749758
NM_000180.3(GUCY2D):c.2234del (p.Pro745Leufs)
NM_000180.3(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168
NM_000180.3(GUCY2D):c.3098_3099insCGTGCTCT (p.Gly1034Valfs) rs1555635925
NM_000180.3:c.1391del rs1567958644
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser) rs1420672586
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile) rs1429137932
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu) rs1191496583
NM_000329.3(RPE65):c.718G>T (p.Val240Phe) rs192907397
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404
NM_000554.6(CRX):c.648del (p.Ser216fs) rs869312175
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter) rs201405662
NM_001023570.4(IQCB1):c.260T>G (p.Leu87Ter) rs1553722736
NM_001080442.2(SLC38A8):c.388+5G>A rs760391436
NM_003322.6(TULP1):c.855dup (p.Val286fs) rs1554125752
NM_006915.3(RP2):c.102G>A (p.Lys34=) rs1556313552
NM_014336.4:c.(?_-1)_(276+1_277-1)del
NM_020366.3(RPGRIP1):c.1116del (p.Lys372fs) rs776880045
NM_020366.3(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159
NM_020366.3(RPGRIP1):c.3120G>A (p.Trp1040Ter) rs1555303320
NM_022787.4(NMNAT1):c.155G>T (p.Gly52Val) rs768528387
NM_022787.4(NMNAT1):c.485C>A (p.Ser162Tyr) rs1553128102
NM_022787.4(NMNAT1):c.661dup (p.Ile221fs) rs775978677
NM_022787.4(NMNAT1):c.736G>C (p.Glu246Gln) rs747653875
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175
NM_025114.3(CEP290):c.180+1G>A rs758593134
NM_025114.3(CEP290):c.21G>T (p.Trp7Cys) rs62635288
NM_025114.3(CEP290):c.6871C>T (p.Gln2291Ter)
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu) rs116733939
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter) rs369775002
NM_201253.3(CRB1):c.2220dup (p.Met741fs) rs1553261468
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_206933.3(USH2A):c.4957C>T (p.Arg1653Ter) rs754768875
Single allele

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