ClinVar Miner

List of variants in gene ABCC9 reported as pathogenic by OMIM

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_020297.4(ABCC9):c.1320+1G>A rs139620148 0.00009
NM_020297.4(ABCC9):c.1433C>T (p.Ala478Val) rs387907211
NM_020297.4(ABCC9):c.178C>T (p.His60Tyr) rs387907230
NM_020297.4(ABCC9):c.3058T>C (p.Ser1020Pro) rs387907229
NM_020297.4(ABCC9):c.3128G>A (p.Cys1043Tyr) rs387907210
NM_020297.4(ABCC9):c.3346C>T (p.Arg1116Cys) rs387907228
NM_020297.4(ABCC9):c.3347G>A (p.Arg1116His) rs387907227
NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp) rs387907208
NM_020297.4(ABCC9):c.3461G>A (p.Arg1154Gln) rs387907209
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT rs869025349
NM_020297.4(ABCC9):c.4512+814C>T rs387906805
NM_020297.4(ABCC9):c.4537G>A (p.Ala1513Thr) rs121909304

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