ClinVar Miner

List of variants in gene ABCC6 reported as likely pathogenic for not provided

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Total variants: 12
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HGVS dbSNP
NM_001171.5(ABCC6):c.1868-5T>G rs72664207
NM_001171.5(ABCC6):c.2390G>A (p.Gly797Glu) rs768570780
NM_001171.5(ABCC6):c.2420G>A (p.Arg807Gln) rs72653794
NM_001171.5(ABCC6):c.2591-1G>T rs1131691865
NM_001171.5(ABCC6):c.2855_2860TCCTCT[1] (p.952_953FL[1]) rs767359198
NM_001171.5(ABCC6):c.3143_3145del (p.Phe1048del) rs769437554
NM_001171.5(ABCC6):c.3398G>C (p.Gly1133Ala) rs63750473
NM_001171.5(ABCC6):c.3415G>A (p.Ala1139Thr) rs63750146
NM_001171.5(ABCC6):c.3491G>A (p.Arg1164Gln) rs63750457
NM_001171.5(ABCC6):c.4016G>A (p.Arg1339His) rs63750622
NM_001171.5(ABCC6):c.4081G>A (p.Asp1361Asn) rs58695352
NM_001171.5(ABCC6):c.496C>T (p.Arg166Cys) rs201766106

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