ClinVar Miner

List of variants in gene POMT2 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_013382.7(POMT2):c.1786-39C>T rs438931 0.12674
NM_013382.7(POMT2):c.1891+49C>T rs61990292 0.04323
NM_013382.7(POMT2):c.1653+38G>A rs142649005 0.00359
NM_013382.7(POMT2):c.439-45C>T rs146792467 0.00314
NM_013382.7(POMT2):c.1332+13C>T rs142916824 0.00211
NM_013382.7(POMT2):c.1593G>A (p.Leu531=) rs147934334 0.00102
NM_013382.7(POMT2):c.1935C>T (p.Leu645=) rs141193672 0.00066
NM_013382.7(POMT2):c.1404A>G (p.Lys468=) rs150491326 0.00043
NM_013382.7(POMT2):c.66C>T (p.Gly22=) rs200670377 0.00027
NM_013382.7(POMT2):c.648C>T (p.Cys216=) rs147871747 0.00013
NM_013382.7(POMT2):c.1250A>G (p.Lys417Arg) rs147268052 0.00011
NM_013382.7(POMT2):c.1333-13G>C rs755487607 0.00011
NM_013382.7(POMT2):c.2057G>A (p.Arg686Gln) rs200163818 0.00005
NM_013382.7(POMT2):c.1253+9A>G rs187294379 0.00004
NM_013382.7(POMT2):c.1692G>A (p.Thr564=) rs183828175 0.00004
NM_013382.7(POMT2):c.817-18G>A rs200104520 0.00004
NM_013382.7(POMT2):c.1725+4G>A rs758851815 0.00003
NM_013382.7(POMT2):c.1408C>T (p.Leu470=) rs886038599
NM_013382.7(POMT2):c.1577-8del rs749856419
NM_013382.7(POMT2):c.1912C>A (p.Arg638=) rs119463989
NM_013382.7(POMT2):c.2038C>T (p.Leu680=)
NM_013382.7(POMT2):c.2214A>G (p.Pro738=) rs2140156918
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln) rs151103906

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