ClinVar Miner

List of variants reported as likely pathogenic by GeniaGeo, Laboratorio Genia

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Total variants: 5
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NM_000023.4(SGCA):c.391dup (p.Leu131fs) rs144356125
NM_000368.4(TSC1):c.1698_1704delinsGC (p.Ala567fs) rs1554815914
NM_000492.4(CFTR):c.1391A>C (p.Lys464Thr) rs1584793633
NM_001130987.2(DYSF):c.3843_3858del (p.Gln1283fs) rs1574277160
NM_001130987.2(DYSF):c.5571G>C (p.Trp1857Cys) rs1573094789

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