ClinVar Miner

List of variants in gene ABCC6 reported as pathogenic by GeneDx

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Total variants: 17
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HGVS dbSNP
NM_001171.5(ABCC6):c.1132C>T (p.Gln378Ter) rs72650699
NM_001171.5(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762
NM_001171.5(ABCC6):c.1256G>A (p.Arg419Gln) rs772434460
NM_001171.5(ABCC6):c.1552C>T (p.Arg518Ter) rs72650700
NM_001171.5(ABCC6):c.1553G>A (p.Arg518Gln) rs72653772
NM_001171.5(ABCC6):c.1675G>T (p.Glu559Ter) rs114149656
NM_001171.5(ABCC6):c.1799G>C (p.Arg600Pro) rs761433545
NM_001171.5(ABCC6):c.196dup (p.Ser66fs) rs1064793538
NM_001171.5(ABCC6):c.2018T>C (p.Leu673Pro) rs67470842
NM_001171.5(ABCC6):c.2787+1G>T rs72664209
NM_001171.5(ABCC6):c.3412C>T (p.Arg1138Trp) rs28939701
NM_001171.5(ABCC6):c.3421C>T (p.Arg1141Ter) rs72653706
NM_001171.5(ABCC6):c.3490C>T (p.Arg1164Ter) rs72653744
NM_001171.5(ABCC6):c.3612_3613CT[1] (p.Ser1205fs) rs745900279
NM_001171.5(ABCC6):c.3904G>A (p.Gly1302Arg) rs63749856
NM_001171.5(ABCC6):c.3940C>T (p.Arg1314Trp) rs63750759
NM_001171.5(ABCC6):c.4182del (p.Lys1394fs) rs67791546

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