ClinVar Miner

List of variants in gene POMT2 reported as uncertain significance for not specified

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_013382.7(POMT2):c.1701C>G (p.Pro567=) rs151051452 0.00062
NM_013382.7(POMT2):c.1903G>A (p.Val635Ile) rs142299878 0.00061
NM_013382.7(POMT2):c.1404A>G (p.Lys468=) rs150491326 0.00043
NM_013382.7(POMT2):c.806G>A (p.Ser269Asn) rs375217032 0.00026
NM_013382.7(POMT2):c.1691C>T (p.Thr564Met) rs142445941 0.00023
NM_013382.7(POMT2):c.148C>G (p.Arg50Gly) rs550420394 0.00013
NM_013382.7(POMT2):c.1124C>T (p.Thr375Ile) rs542912704 0.00005
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.1785G>A (p.Pro595=) rs202237807 0.00004
NM_013382.7(POMT2):c.1006+5G>A rs587780422 0.00002
NM_013382.7(POMT2):c.796G>A (p.Gly266Arg) rs761773211 0.00002
NM_013382.7(POMT2):c.1699C>T (p.Pro567Ser) rs727502858 0.00001
NM_013382.7(POMT2):c.1975C>T (p.Arg659Trp) rs372939905 0.00001
NM_013382.7(POMT2):c.244A>T (p.Ile82Phe) rs373944477 0.00001
NM_013382.7(POMT2):c.295C>T (p.Arg99Cys) rs199719668 0.00001
NM_013382.7(POMT2):c.629T>C (p.Met210Thr) rs369654108 0.00001
NM_013382.7(POMT2):c.134C>T (p.Pro45Leu) rs753037500
NM_013382.7(POMT2):c.1465_1476del (p.Gly489_Leu492del)
NM_013382.7(POMT2):c.1637A>C (p.His546Pro)
NM_013382.7(POMT2):c.2147+1del
NM_013382.7(POMT2):c.2197C>T (p.Gln733Ter) rs1452558347
NM_013382.7(POMT2):c.2201del (p.Asp734fs) rs2140156993
NM_013382.7(POMT2):c.406T>C (p.Tyr136His) rs1891230114
NM_013382.7(POMT2):c.558C>G (p.Cys186Trp) rs2139487152

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