ClinVar Miner

List of variants in gene ABCC9 reported as benign by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_020297.4(ABCC9):c.1296= (p.Pro432=) rs10770865 0.99692
NM_020297.4(ABCC9):c.1848C>T (p.Asp616=) rs61001398 0.01493
NM_020297.4(ABCC9):c.3321C>T (p.Ile1107=) rs35404804 0.01226
NM_020297.4(ABCC9):c.3409G>A (p.Val1137Ile) rs147895473 0.00739
NM_020297.4(ABCC9):c.2631G>A (p.Thr877=) rs139408145 0.00386
NM_020297.4(ABCC9):c.2523C>T (p.Ala841=) rs144537241 0.00345
NM_020297.4(ABCC9):c.2093-7T>C rs185235724 0.00261
NM_020297.4(ABCC9):c.3768T>C (p.Leu1256=) rs150303433 0.00209
NM_020297.4(ABCC9):c.1677G>A (p.Ala559=) rs76458291 0.00193
NM_020297.4(ABCC9):c.924T>C (p.Asp308=) rs139127928 0.00140
NM_020297.4(ABCC9):c.2826T>C (p.Tyr942=) rs141025897 0.00092
NM_020297.4(ABCC9):c.2238-1G>A rs141281214 0.00056
NM_020297.4(ABCC9):c.372T>C (p.Asn124=) rs377384557 0.00051
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser) rs148174226 0.00039
NM_020297.4(ABCC9):c.2262T>C (p.Tyr754=) rs145561881 0.00029
NM_020297.4(ABCC9):c.1165-6del rs35857705
NM_020297.4(ABCC9):c.1165-6dup rs35857705
NM_020297.4(ABCC9):c.4450-5del rs4148680
NM_020297.4(ABCC9):c.4450-5dup rs4148680
NM_020297.4(ABCC9):c.817-7del rs193922684

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