ClinVar Miner

List of variants in gene ABCC6 reported as uncertain significance by GeneDx

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001171.6(ABCC6):c.2359G>A (p.Val787Ile) rs72653792 0.00044
NM_001171.6(ABCC6):c.1639G>A (p.Ala547Thr) rs56877937 0.00032
NM_001171.6(ABCC6):c.2782G>A (p.Gly928Ser) rs142470921 0.00009
NM_001171.6(ABCC6):c.3557C>A (p.Ala1186Asp) rs149460452 0.00006
NM_001171.6(ABCC6):c.259G>A (p.Val87Met) rs1021031399 0.00004
NM_001171.6(ABCC6):c.600+1G>A rs1187315015 0.00004
NM_001171.6(ABCC6):c.113G>C (p.Trp38Ser) rs72653752 0.00003
NM_001171.6(ABCC6):c.179G>A (p.Arg60Gln) rs183648123 0.00003
NM_001171.6(ABCC6):c.2935G>C (p.Gly979Arg) rs569941928 0.00003
NM_001171.6(ABCC6):c.1088A>C (p.Gln363Pro) rs944015667 0.00002
NM_001171.6(ABCC6):c.1112T>C (p.Met371Thr) rs756614582 0.00002
NM_001171.6(ABCC6):c.2342C>T (p.Ala781Val) rs72653791 0.00002
NM_001171.6(ABCC6):c.2428G>A (p.Val810Met) rs72653795 0.00002
NM_001171.6(ABCC6):c.2965G>A (p.Gly989Arg) rs529676674 0.00001
NM_001171.6(ABCC6):c.1094T>C (p.Leu365Pro) rs1064794607
NM_001171.6(ABCC6):c.2230A>C (p.Thr744Pro) rs1555513073
NM_001171.6(ABCC6):c.2393C>T (p.Pro798Leu) rs142223793
NM_001171.6(ABCC6):c.2552T>C (p.Leu851Pro) rs72653799
NM_001171.6(ABCC6):c.3035G>A (p.Gly1012Asp)
NM_001171.6(ABCC6):c.3739C>T (p.Pro1247Ser) rs199694536
NM_001171.6(ABCC6):c.4487T>C (p.Leu1496Pro) rs2152206685
NM_001171.6(ABCC6):c.595C>A (p.Gln199Lys)
NM_001171.6(ABCC6):c.990G>A (p.Lys330=) rs2152283760

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