ClinVar Miner

List of variants in gene ABCC9 reported by Biesecker Lab/Human Development Section,National Institutes of Health

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Gene type:
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Total variants: 18
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HGVS dbSNP
NM_005691.3(ABCC9):c.1887G>T (p.Glu629Asp) rs150036969
NM_005691.3(ABCC9):c.1981C>T (p.Arg661Cys) rs199499109
NM_005691.3(ABCC9):c.2050G>A (p.Gly684Ser) rs148174226
NM_005691.3(ABCC9):c.2066C>T (p.Ser689Phe) rs200288646
NM_005691.3(ABCC9):c.2200G>A (p.Val734Ile) rs61688134
NM_005691.3(ABCC9):c.2215C>G (p.Pro739Ala) rs201223488
NM_005691.3(ABCC9):c.2238-1G>A rs141281214
NM_005691.3(ABCC9):c.2813G>A (p.Arg938Gln) rs201838439
NM_005691.3(ABCC9):c.287G>A (p.Arg96Gln) rs202103893
NM_005691.3(ABCC9):c.3299C>T (p.Thr1100Ile) rs201358406
NM_005691.3(ABCC9):c.3409G>A (p.Val1137Ile) rs147895473
NM_005691.3(ABCC9):c.3594G>A (p.Met1198Ile) rs199900459
NM_005691.3(ABCC9):c.3955G>A (p.Val1319Ile) rs200499616
NM_005691.3(ABCC9):c.406+2111C>G rs786205274
NM_005691.3(ABCC9):c.4570T>A (p.Leu1524Ile) rs139703258
NM_005691.3(ABCC9):c.4571T>A (p.Leu1524Ter) rs150631550
NM_005691.3(ABCC9):c.4572_4573insT (p.Val1525Cysfs) rs761784169
NM_005691.3(ABCC9):c.4613A>G (p.Asn1538Ser) rs372859669

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