ClinVar Miner

List of variants in gene ABCC9 reported as likely pathogenic by GeneDx

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_020297.4(ABCC9):c.1385T>C (p.Val462Ala) rs1001916923
NM_020297.4(ABCC9):c.2378A>T (p.Asp793Val) rs1057521640
NM_020297.4(ABCC9):c.3347G>T (p.Arg1116Leu) rs387907227
NM_020297.4(ABCC9):c.3637T>G (p.Ser1213Ala) rs1064794779
NM_020297.4(ABCC9):c.3656T>G (p.Leu1219Arg) rs1064794780
NM_020297.4(ABCC9):c.3796G>A (p.Val1266Met) rs1555179320
NM_020297.4(ABCC9):c.4407T>G (p.Ile1469Met) rs1057521820

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