ClinVar Miner

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

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_013382.7(POMT2):c.1911= (p.Leu637=) rs3209079 0.17887
NM_013382.7(POMT2):c.1654-6A>G rs4540995 0.14330
NM_013382.7(POMT2):c.162G>T (p.Ala54=) rs2270420 0.05519
NM_013382.7(POMT2):c.161C>A (p.Ala54Glu) rs8177536 0.03119
NM_013382.7(POMT2):c.924-10C>T rs142122657 0.00258
NM_013382.7(POMT2):c.1935C>T (p.Leu645=) rs141193672 0.00066
NM_013382.7(POMT2):c.1903G>A (p.Val635Ile) rs142299878 0.00061
NM_013382.7(POMT2):c.1537A>G (p.Asn513Asp) rs117173425 0.00056
NM_013382.7(POMT2):c.1404A>G (p.Lys468=) rs150491326 0.00043
NM_013382.7(POMT2):c.148C>G (p.Arg50Gly) rs550420394 0.00013
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778 0.00010
NM_013382.7(POMT2):c.871C>G (p.Leu291Val) rs764015186 0.00005
NM_013382.7(POMT2):c.1654-10C>T rs754208063 0.00004
NM_013382.7(POMT2):c.1006+5G>A rs587780422 0.00002
NM_013382.7(POMT2):c.881A>G (p.Tyr294Cys) rs587780423 0.00002
NM_013382.7(POMT2):c.629T>C (p.Met210Thr) rs369654108 0.00001
NM_013382.5(POMT2):c.49_50delinsA (p.Arg18fs) rs1555356398
NM_013382.7(POMT2):c.134C>T (p.Pro45Leu) rs753037500
NM_013382.7(POMT2):c.1577-5_1577-1delinsTGA rs797045898

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