ClinVar Miner

List of variants in gene POMT2 reported as likely pathogenic for not provided

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Total variants: 6
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HGVS dbSNP
NM_013382.5(POMT2):c.1603delC (p.Gln535Serfs) rs786205625
NM_013382.5(POMT2):c.1764_1765delAG (p.Val589Leufs) rs1555351889
NM_013382.5(POMT2):c.1863_1864del (p.Ala623Thrfs) rs1555351849
NM_013382.5(POMT2):c.2197C>T (p.Gln733Ter) rs1452558347
NM_013382.5(POMT2):c.2206delC (p.Gln736Lysfs) rs774412117
NM_013382.5(POMT2):c.881A>G (p.Tyr294Cys) rs587780423

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