ClinVar Miner

List of variants in gene ABCA4 reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP
NM_000350.2(ABCA4):c.1018T>C (p.Tyr340His) rs61748548
NM_000350.2(ABCA4):c.1082C>A (p.Ser361Tyr) rs748487419
NM_000350.2(ABCA4):c.1241C>A (p.Ala414Asp) rs1553193893
NM_000350.2(ABCA4):c.1411G>A (p.Glu471Lys) rs1800548
NM_000350.2(ABCA4):c.1532G>A (p.Arg511His) rs140482171
NM_000350.2(ABCA4):c.1654G>A (p.Val552Ile) rs145525174
NM_000350.2(ABCA4):c.1715G>A (p.Arg572Gln) rs61748559
NM_000350.2(ABCA4):c.1928T>G (p.Val643Gly) rs61754024
NM_000350.2(ABCA4):c.2036A>T (p.Glu679Val) rs1553192420
NM_000350.2(ABCA4):c.2096C>A (p.Thr699Asn) rs1057519142
NM_000350.2(ABCA4):c.2184C>A (p.Ser728Arg) rs776910485
NM_000350.2(ABCA4):c.2236A>G (p.Met746Val) rs1293462383
NM_000350.2(ABCA4):c.2772G>A (p.Gly924=) rs371907790
NM_000350.2(ABCA4):c.370C>T (p.Arg124Cys) rs138359497
NM_000350.2(ABCA4):c.3813+7T>C rs769882474
NM_000350.2(ABCA4):c.4417C>A (p.Leu1473Met) rs142732109
NM_000350.2(ABCA4):c.4578G>A (p.Thr1526=) rs138831474
NM_000350.2(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111
NM_000350.2(ABCA4):c.4771G>A (p.Gly1591Arg) rs113106943
NM_000350.2(ABCA4):c.4772G>A (p.Gly1591Glu) rs1472640519
NM_000350.2(ABCA4):c.5560G>T (p.Val1854Leu) rs374687000
NM_000350.2(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466
NM_000350.2(ABCA4):c.5693G>A (p.Arg1898His) rs1800552
NM_000350.2(ABCA4):c.587C>T (p.Pro196Leu) rs769176363
NM_000350.2(ABCA4):c.656G>C (p.Arg219Thr) rs61748537
NM_000350.2(ABCA4):c.6721C>G (p.Leu2241Val) rs61748521
NM_000350.2(ABCA4):c.764G>A (p.Arg255His) rs148387660
NM_000350.2(ABCA4):c.885C>G (p.Asp295Glu) rs1553194068
NM_000350.2(ABCA4):c.88G>A (p.Val30Met) rs202127496
NM_000350.2(ABCA4):c.956T>G (p.Leu319Arg) rs886044723
NM_000350.3(ABCA4):c.3701C>T (p.Pro1234Leu)
NM_000350.3(ABCA4):c.4598T>C (p.Phe1533Ser)

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