ClinVar Miner

List of variants in gene POMT2 reported as likely pathogenic

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Total variants: 14
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HGVS dbSNP
NM_013382.5(POMT2):c.1006+5G>A rs587780422
NM_013382.5(POMT2):c.1485-2_1485-1del rs1185491348
NM_013382.5(POMT2):c.1603del (p.Gln535fs) rs786205625
NM_013382.5(POMT2):c.1752_1753CA[1] (p.Thr585fs) rs1555351894
NM_013382.5(POMT2):c.1764_1765del (p.Val589fs) rs1555351889
NM_013382.5(POMT2):c.1859_1860AG[2] (p.Ala623fs) rs1555351849
NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778
NM_013382.5(POMT2):c.2197C>T (p.Gln733Ter) rs1452558347
NM_013382.5(POMT2):c.2206del (p.Gln736fs) rs774412117
NM_013382.5(POMT2):c.248+1G>C
NM_013382.5(POMT2):c.431T>G (p.Met144Arg) rs1060499766
NM_013382.5(POMT2):c.49_50delinsA (p.Arg18fs) rs1555356398
NM_013382.5(POMT2):c.881A>G (p.Tyr294Cys) rs587780423
NM_013382.5(POMT2):c.[1170_1171delTA];[1261C>T]

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