ClinVar Miner

List of variants in gene ABCC9 reported as likely pathogenic

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Gene type:
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Total variants: 19
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HGVS dbSNP
NC_000012.12:g.21894131G>A
NM_005691.3(ABCC9):c.1011+1G>A rs1565477732
NM_005691.3(ABCC9):c.1385T>C (p.Val462Ala) rs1001916923
NM_005691.3(ABCC9):c.1858C>T (p.Arg620Ter) rs1024095026
NM_005691.3(ABCC9):c.1911+2T>C rs1131691589
NM_005691.3(ABCC9):c.1978C>T (p.Arg660Trp) rs760889253
NM_005691.3(ABCC9):c.2019+2T>C rs1555100687
NM_005691.3(ABCC9):c.2378A>T (p.Asp793Val) rs1057521640
NM_005691.3(ABCC9):c.2554C>T (p.Gln852Ter) rs193922683
NM_005691.3(ABCC9):c.2815C>T (p.Arg939Trp) rs373890183
NM_005691.3(ABCC9):c.3346C>T (p.Arg1116Cys) rs387907228
NM_005691.3(ABCC9):c.3347G>T (p.Arg1116Leu) rs387907227
NM_005691.3(ABCC9):c.3520C>T (p.His1174Tyr) rs786205475
NM_005691.3(ABCC9):c.3637T>G (p.Ser1213Ala) rs1064794779
NM_005691.3(ABCC9):c.3650G>A (p.Arg1217Lys) rs12298510
NM_005691.3(ABCC9):c.3656T>G (p.Leu1219Arg) rs1064794780
NM_005691.3(ABCC9):c.3796G>A (p.Val1266Met) rs1555179320
NM_005691.3(ABCC9):c.4407T>G (p.Ile1469Met) rs1057521820
NM_005691.3(ABCC9):c.878T>C (p.Phe293Ser) rs1057516044

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