ClinVar Miner

List of variants in gene ABCC6 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 9
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HGVS dbSNP
NM_001171.5(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762
NM_001171.5(ABCC6):c.1263C>T (p.Thr421=) rs114179357
NM_001171.5(ABCC6):c.1424A>T (p.His475Leu) rs151187637
NM_001171.5(ABCC6):c.2814C>A (p.Tyr938Ter) rs72653704
NM_001171.5(ABCC6):c.3413G>A (p.Arg1138Gln) rs60791294
NM_001171.5(ABCC6):c.3421C>T (p.Arg1141Ter) rs72653706
NM_001171.5(ABCC6):c.3507-3C>T rs41278172
NM_001171.5(ABCC6):c.496C>T (p.Arg166Cys) rs201766106
NM_001171.5(ABCC6):c.742C>T (p.Leu248Phe) rs72653756

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