ClinVar Miner

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

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Total variants: 63
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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.2200G>A (p.Val734Ile) rs61688134 0.00769
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.798T>C (p.Asp266=) rs138356189 0.00113
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.1887G>T (p.Glu629Asp) rs150036969 0.00032
NM_020297.4(ABCC9):c.1557G>A (p.Glu519=) rs143346402 0.00029
NM_020297.4(ABCC9):c.2262T>C (p.Tyr754=) rs145561881 0.00029
NM_020297.4(ABCC9):c.3729G>A (p.Ser1243=) rs140182559 0.00023
NM_020297.4(ABCC9):c.1909G>A (p.Val637Ile) rs113542001 0.00016
NM_020297.4(ABCC9):c.4062G>A (p.Ser1354=) rs145005748 0.00016
NM_020297.4(ABCC9):c.4638C>T (p.Arg1546=) rs143310355 0.00013
NM_020297.4(ABCC9):c.142+10C>A rs138917284 0.00007
NM_020297.4(ABCC9):c.4437T>C (p.Ile1479=) rs368079660 0.00006
NM_020297.4(ABCC9):c.2932C>A (p.Pro978Thr) rs376874273 0.00003
NM_020297.4(ABCC9):c.3357G>A (p.Leu1119=) rs2287626 0.00003
NM_020297.4(ABCC9):c.3594G>A (p.Met1198Ile) rs199900459 0.00003
NM_020297.4(ABCC9):c.1456-3T>C rs759866398 0.00001
NM_020297.4(ABCC9):c.2045G>A (p.Gly682Asp) rs752106985 0.00001
NM_020297.4(ABCC9):c.2086C>T (p.Pro696Ser) rs183603557 0.00001
NM_020297.4(ABCC9):c.3007T>C (p.Leu1003=) rs138700703 0.00001
NM_020297.4(ABCC9):c.3051A>G (p.Thr1017=) rs1290109600 0.00001
NM_020297.4(ABCC9):c.3273G>C (p.Leu1091=) rs144325590 0.00001
NM_020297.4(ABCC9):c.3831T>A (p.Gly1277=) rs760351484 0.00001
NM_020297.4(ABCC9):c.67T>A (p.Ser23Thr) rs1949497438 0.00001
NM_020297.4(ABCC9):c.764T>C (p.Met255Thr) rs150627958 0.00001
NM_020297.4(ABCC9):c.842G>A (p.Arg281Gln) rs753456211 0.00001
NM_020297.4(ABCC9):c.957T>C (p.Ser319=) rs768245158 0.00001
NM_020297.4(ABCC9):c.1011+1G>A rs1565477732
NM_020297.4(ABCC9):c.1012-6G>A rs1003995698
NM_020297.4(ABCC9):c.1165-6del rs35857705
NM_020297.4(ABCC9):c.1165-6dup rs35857705
NM_020297.4(ABCC9):c.143-13CT[2] rs777987930
NM_020297.4(ABCC9):c.1471A>C (p.Arg491=) rs1948042755
NM_020297.4(ABCC9):c.1521G>A (p.Leu507=) rs1565470512
NM_020297.4(ABCC9):c.1841T>C (p.Ile614Thr) rs1946960010
NM_020297.4(ABCC9):c.2475G>A (p.Ala825=) rs587780845
NM_020297.4(ABCC9):c.2583T>A (p.Asp861Glu) rs1565740446
NM_020297.4(ABCC9):c.2797G>A (p.Glu933Lys) rs1565735162
NM_020297.4(ABCC9):c.2799G>A (p.Glu933=) rs1565735141
NM_020297.4(ABCC9):c.323C>G (p.Ala108Gly) rs1565491519
NM_020297.4(ABCC9):c.3316-3T>C
NM_020297.4(ABCC9):c.3863T>C (p.Met1288Thr) rs772795759
NM_020297.4(ABCC9):c.420T>C (p.Tyr140=) rs397517189
NM_020297.4(ABCC9):c.4362A>G (p.Arg1454=) rs1941931456
NM_020297.4(ABCC9):c.4450-5del rs4148680
NM_020297.4(ABCC9):c.4450-5dup rs4148680
NM_020297.4(ABCC9):c.4512+746_4512+747insT rs761784169
NM_020297.4(ABCC9):c.4512+814C>T rs387906805
NM_020297.4(ABCC9):c.817-14_817-4del rs774857795
NM_020297.4(ABCC9):c.817-7del rs193922684
NM_020297.4(ABCC9):c.90C>T (p.Asn30=) rs1428470419

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