ClinVar Miner

List of variants in gene POMT1 reported as likely benign by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

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Total variants: 6
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HGVS dbSNP
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385
NM_001077365.2(POMT1):c.1932C>T (p.Tyr644=) rs146512619
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=) rs147143094
NM_001077365.2(POMT1):c.700-28A>G rs187996836
NM_001077365.2(POMT1):c.986+9A>G rs202095070

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