ClinVar Miner

List of variants in gene POMT2 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_013382.7(POMT2):c.1262G>A (p.Arg421Gln) rs151078549 0.00333
NM_013382.7(POMT2):c.1881G>A (p.Ala627=) rs146588608 0.00158
NM_013382.7(POMT2):c.1683T>C (p.Asn561=) rs146307965 0.00148
NM_013382.7(POMT2):c.1701C>G (p.Pro567=) rs151051452 0.00062
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.36C>A (p.Ser12=) rs771074829 0.00014
NM_013382.7(POMT2):c.1889C>T (p.Ala630Val) rs752214239 0.00012
NM_013382.7(POMT2):c.1250A>G (p.Lys417Arg) rs147268052 0.00011
NM_013382.7(POMT2):c.133C>T (p.Pro45Ser) rs780976004 0.00008
NM_013382.7(POMT2):c.640A>C (p.Asn214His) rs376485603 0.00006
NM_013382.7(POMT2):c.2057G>A (p.Arg686Gln) rs200163818 0.00005
NM_013382.7(POMT2):c.1732C>T (p.Arg578Cys) rs148466370 0.00004
NM_013382.7(POMT2):c.1785G>A (p.Pro595=) rs202237807 0.00004
NM_013382.7(POMT2):c.1743G>A (p.Gly581=) rs755254043 0.00003
NM_013382.7(POMT2):c.1186C>T (p.Pro396Ser) rs764723711 0.00001
NM_013382.7(POMT2):c.1229A>T (p.Asp410Val) rs886043224 0.00001
NM_013382.7(POMT2):c.295C>T (p.Arg99Cys) rs199719668 0.00001
NM_013382.7(POMT2):c.733G>A (p.Val245Ile) rs765784041 0.00001
NM_013382.7(POMT2):c.*2151A>G rs45579739
NM_013382.7(POMT2):c.1184-4_1184-3delinsTT rs2140195555
NM_013382.7(POMT2):c.1312C>T (p.Gln438Ter) rs995812794
NM_013382.7(POMT2):c.1332+6_1332+9del rs781093215
NM_013382.7(POMT2):c.1658dup (p.Asn553fs) rs886043110
NM_013382.7(POMT2):c.1754C>T (p.Thr585Ile) rs797019891
NM_013382.7(POMT2):c.1891+220C>T
NM_013382.7(POMT2):c.1958C>T (p.Pro653Leu) rs794727228
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_013382.7(POMT2):c.762G>A (p.Gly254=)

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