ClinVar Miner

List of variants in gene ABCC9 reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 39
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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.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.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.395A>G (p.Lys132Arg) rs727505161 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.47A>G (p.Asn16Ser) rs727502877 0.00001
NM_020297.4(ABCC9):c.-14_-8del rs746420722
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.2000C>A (p.Thr667Lys) rs397517186
NM_020297.4(ABCC9):c.2644-11G>C rs61926078
NM_020297.4(ABCC9):c.2746C>T (p.Arg916Trp) rs533032970
NM_020297.4(ABCC9):c.3315+4A>G rs727504847
NM_020297.4(ABCC9):c.4196dup (p.Ser1400fs) rs730880370
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT rs869025349
NM_020297.4(ABCC9):c.573+6T>C rs397517192

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