ClinVar Miner

List of variants in gene ABCA4 studied for Retinitis pigmentosa

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Total variants: 19
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HGVS dbSNP
NM_000350.2(ABCA4):c.1557C>A (p.Cys519Ter) rs1553192726
NM_000350.2(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.2(ABCA4):c.2537A>T (p.Asp846Val) rs779466403
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.2(ABCA4):c.2894A>G (p.Asn965Ser) rs201471607
NM_000350.2(ABCA4):c.2915C>A (p.Thr972Asn) rs61749451
NM_000350.2(ABCA4):c.2927delT (p.Leu976Argfs) rs863223338
NM_000350.2(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.2(ABCA4):c.3364G>A (p.Glu1122Lys) rs61751399
NM_000350.2(ABCA4):c.4537dupC (p.Gln1513Profs) rs281865377
NM_000350.2(ABCA4):c.4926C>G (p.Ser1642Arg) rs61753017
NM_000350.2(ABCA4):c.5018+5G>A rs1553188588
NM_000350.2(ABCA4):c.5461-10T>C rs1800728
NM_000350.2(ABCA4):c.5693G>A (p.Arg1898His) rs1800552
NM_000350.2(ABCA4):c.5836-3C>A rs1064793013
NM_000350.2(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.2(ABCA4):c.6729+5_6729+19delGTTGGCCCTGGGGCA rs749526785
NM_000350.2(ABCA4):c.768G>T (p.Val256=) rs62645944
NM_000350.3(ABCA4):c.2613G>A (p.Trp871Ter)

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