ClinVar Miner

List of variants in gene ABCC9 reported as uncertain significance for not specified

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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_020297.4(ABCC9):c.2199-13G>A rs201226082 0.00062
NM_020297.4(ABCC9):c.2238-1G>A rs141281214 0.00056
NM_020297.4(ABCC9):c.2770-13A>G rs184123387 0.00055
NM_020297.4(ABCC9):c.1165-20del rs768812471 0.00032
NM_020297.4(ABCC9):c.1887G>T (p.Glu629Asp) rs150036969 0.00032
NM_020297.4(ABCC9):c.305T>C (p.Leu102Pro) rs374659816 0.00029
NM_020297.4(ABCC9):c.4512+690C>T rs397517191 0.00017
NM_020297.4(ABCC9):c.1909G>A (p.Val637Ile) rs113542001 0.00016
NM_020297.4(ABCC9):c.3669G>A (p.Thr1223=) rs146942382 0.00016
NM_020297.4(ABCC9):c.4512+765C>T rs142875103 0.00016
NM_020297.4(ABCC9):c.1987C>T (p.Arg663Cys) rs200349671 0.00014
NM_020297.4(ABCC9):c.1988G>A (p.Arg663His) rs141999048 0.00006
NM_020297.4(ABCC9):c.3070A>G (p.Ile1024Val) rs376701259 0.00006
NM_020297.4(ABCC9):c.3668C>T (p.Thr1223Met) rs137907278 0.00006
NM_020297.4(ABCC9):c.*5G>C rs876657736 0.00004
NM_020297.4(ABCC9):c.1012-7G>A rs727502874 0.00003
NM_020297.4(ABCC9):c.1063G>T (p.Ala355Ser) rs145455570 0.00003
NM_020297.4(ABCC9):c.2932C>A (p.Pro978Thr) rs376874273 0.00003
NM_020297.4(ABCC9):c.4512+693G>A rs876657737 0.00003
NM_020297.4(ABCC9):c.575G>A (p.Arg192Lys) rs727504612 0.00002
NM_020297.4(ABCC9):c.1603T>C (p.Tyr535His) rs397517184 0.00001
NM_020297.4(ABCC9):c.169C>T (p.Gln57Ter) rs727502876 0.00001
NM_020297.4(ABCC9):c.1933A>G (p.Lys645Glu) rs876657734 0.00001
NM_020297.4(ABCC9):c.1982G>A (p.Arg661His) rs397517185 0.00001
NM_020297.4(ABCC9):c.2081G>A (p.Arg694Gln) rs267603424 0.00001
NM_020297.4(ABCC9):c.2149G>A (p.Ala717Thr) rs397517187 0.00001
NM_020297.4(ABCC9):c.2425-13G>A rs397517188 0.00001
NM_020297.4(ABCC9):c.289C>T (p.Arg97Trp) rs727502875 0.00001
NM_020297.4(ABCC9):c.3669+1G>C rs950805207 0.00001
NM_020297.4(ABCC9):c.395A>G (p.Lys132Arg) rs727505161 0.00001
NM_020297.4(ABCC9):c.4094T>C (p.Ile1365Thr) rs1328493674 0.00001
NM_020297.4(ABCC9):c.4352T>C (p.Val1451Ala) rs397517190 0.00001
NM_020297.4(ABCC9):c.4512+787A>G rs372859669 0.00001
NM_020297.4(ABCC9):c.4512T>A (p.Ala1504=) rs777591544 0.00001
NM_020297.4(ABCC9):c.47A>G (p.Asn16Ser) rs727502877 0.00001
GRCh37/hg19 12p12.1(chr12:22023587-22086710)
GRCh37/hg19 12p12.1(chr12:22059874-22080237)x1
NM_020297.4(ABCC9):c.-14_-8del rs746420722
NM_020297.4(ABCC9):c.1006A>G (p.Thr336Ala)
NM_020297.4(ABCC9):c.1043T>G (p.Leu348Arg) rs876661339
NM_020297.4(ABCC9):c.1142T>A (p.Ile381Asn) rs397517181
NM_020297.4(ABCC9):c.1358G>C (p.Gly453Ala) rs397517183
NM_020297.4(ABCC9):c.143-1G>C
NM_020297.4(ABCC9):c.1456-10del rs763459861
NM_020297.4(ABCC9):c.2000C>A (p.Thr667Lys) rs397517186
NM_020297.4(ABCC9):c.233C>T (p.Ala78Val) rs1253372454
NM_020297.4(ABCC9):c.23ACA[1] (p.Asn9del) rs1949499149
NM_020297.4(ABCC9):c.2644-11G>C rs61926078
NM_020297.4(ABCC9):c.2746C>T (p.Arg916Trp) rs533032970
NM_020297.4(ABCC9):c.2914A>T (p.Arg972Trp) rs1565731883
NM_020297.4(ABCC9):c.3076A>G (p.Asn1026Asp) rs369389402
NM_020297.4(ABCC9):c.3315+4A>G rs727504847
NM_020297.4(ABCC9):c.3669+4C>T rs189565793
NM_020297.4(ABCC9):c.3674A>G (p.Tyr1225Cys) rs200876028
NM_020297.4(ABCC9):c.3868T>C (p.Ser1290Pro)
NM_020297.4(ABCC9):c.4103-1G>A rs1189432427
NM_020297.4(ABCC9):c.4112T>G (p.Val1371Gly)
NM_020297.4(ABCC9):c.4196dup (p.Ser1400fs) rs730880370
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT rs869025349
NM_020297.4(ABCC9):c.4512+745dup rs1555176123
NM_020297.4(ABCC9):c.4512+826C>T rs2137103904
NM_020297.4(ABCC9):c.573+6T>C rs397517192
NM_020297.4(ABCC9):c.599_601delinsCTG (p.Gln200_Lys201delinsProGlu) rs1555116594
NM_020297.4(ABCC9):c.614C>T (p.Pro205Leu) rs1286474202
NM_020297.4(ABCC9):c.826G>A (p.Ala276Thr) rs201783967
NM_020297.4(ABCC9):c.881G>A (p.Gly294Glu) rs1555115054
NM_020297.4(ABCC9):c.907T>C (p.Phe303Leu)

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