ClinVar Miner

List of variants in gene POMT2 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 17
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HGVS dbSNP
NM_013382.5(POMT2):c.1006+5G>A rs587780422
NM_013382.5(POMT2):c.1404A>G (p.Lys468=) rs150491326
NM_013382.5(POMT2):c.148C>G (p.Arg50Gly) rs550420394
NM_013382.5(POMT2):c.1537A>G (p.Asn513Asp) rs117173425
NM_013382.5(POMT2):c.1577-5_1577-1delinsTGA rs797045898
NM_013382.5(POMT2):c.161C>A (p.Ala54Glu) rs8177536
NM_013382.5(POMT2):c.162G>T (p.Ala54=) rs2270420
NM_013382.5(POMT2):c.1654-6A>G rs4540995
NM_013382.5(POMT2):c.1903G>A (p.Val635Ile) rs142299878
NM_013382.5(POMT2):c.1911G>T (p.Leu637=) rs3209079
NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778
NM_013382.5(POMT2):c.49_50delinsA (p.Arg18fs) rs1555356398
NM_013382.5(POMT2):c.678del (p.Trp226fs) rs755660222
NM_013382.5(POMT2):c.713G>T (p.Gly238Val) rs1555354172
NM_013382.5(POMT2):c.871C>G (p.Leu291Val) rs764015186
NM_013382.5(POMT2):c.881A>G (p.Tyr294Cys) rs587780423
NM_013382.5(POMT2):c.924-10C>T rs142122657

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