ClinVar Miner

List of variants in gene POMT2 studied for Limb-Girdle Muscular Dystrophy, Recessive

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Total variants: 73
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HGVS dbSNP
NM_013382.5(POMT2):c.*103C>T rs886050825
NM_013382.5(POMT2):c.*1053A>G rs886050817
NM_013382.5(POMT2):c.*1058G>A rs11624564
NM_013382.5(POMT2):c.*1087C>T rs59725094
NM_013382.5(POMT2):c.*1137G>A rs7158951
NM_013382.5(POMT2):c.*119T>C rs886050824
NM_013382.5(POMT2):c.*1265T>G rs886050816
NM_013382.5(POMT2):c.*1285T>C rs886050815
NM_013382.5(POMT2):c.*1317A>G rs144329117
NM_013382.5(POMT2):c.*1337C>T rs45561437
NM_013382.5(POMT2):c.*1501G>A rs4141640
NM_013382.5(POMT2):c.*1516A>G rs45518539
NM_013382.5(POMT2):c.*1579C>A rs780717261
NM_013382.5(POMT2):c.*15T>C rs538140316
NM_013382.5(POMT2):c.*1603C>T rs139267307
NM_013382.5(POMT2):c.*1610T>C rs886050814
NM_013382.5(POMT2):c.*1724C>T rs45510397
NM_013382.5(POMT2):c.*1742G>A rs12894594
NM_013382.5(POMT2):c.*1748C>A rs45458096
NM_013382.5(POMT2):c.*1749C>A rs543216671
NM_013382.5(POMT2):c.*1756C>T rs148688355
NM_013382.5(POMT2):c.*1805G>A rs184473107
NM_013382.5(POMT2):c.*1967C>T rs11547794
NM_013382.5(POMT2):c.*196G>A rs773072355
NM_013382.5(POMT2):c.*1974G>A rs11159254
NM_013382.5(POMT2):c.*2072C>T rs558857629
NM_013382.5(POMT2):c.*2091G>T rs139493728
NM_013382.5(POMT2):c.*2093A>G rs528818473
NM_013382.5(POMT2):c.*2151A>G rs45579739
NM_013382.5(POMT2):c.*2160T>C rs886050813
NM_013382.5(POMT2):c.*2165T>C rs770272986
NM_013382.5(POMT2):c.*2325A>G rs11547793
NM_013382.5(POMT2):c.*2369dupA rs113216374
NM_013382.5(POMT2):c.*289G>A rs886050823
NM_013382.5(POMT2):c.*349G>A rs886050822
NM_013382.5(POMT2):c.*433T>C rs574303799
NM_013382.5(POMT2):c.*587G>A rs10141995
NM_013382.5(POMT2):c.*594G>A rs886050821
NM_013382.5(POMT2):c.*597C>T rs886050820
NM_013382.5(POMT2):c.*605C>T rs186897393
NM_013382.5(POMT2):c.*606G>A rs141262145
NM_013382.5(POMT2):c.*622C>G rs886050819
NM_013382.5(POMT2):c.*682_*683delAG rs572839285
NM_013382.5(POMT2):c.*693C>G rs752332125
NM_013382.5(POMT2):c.*758G>A rs371632843
NM_013382.5(POMT2):c.*75C>T rs1055592
NM_013382.5(POMT2):c.*790G>A rs7159558
NM_013382.5(POMT2):c.*927G>C rs886050818
NM_013382.5(POMT2):c.-124G>A rs147337187
NM_013382.5(POMT2):c.-128C>T rs116224770
NM_013382.5(POMT2):c.-142C>T rs886050827
NM_013382.5(POMT2):c.-149C>A rs886050828
NM_013382.5(POMT2):c.-199C>T rs886050829
NM_013382.5(POMT2):c.-47_-44delGACA rs368351148
NM_013382.5(POMT2):c.-56G>A rs567281401
NM_013382.5(POMT2):c.-64G>A rs2270421
NM_013382.5(POMT2):c.1133A>G (p.His378Arg) rs867000155
NM_013382.5(POMT2):c.1186C>T (p.Pro396Ser) rs764723711
NM_013382.5(POMT2):c.1396C>T (p.Arg466Trp) rs763119319
NM_013382.5(POMT2):c.1464G>A (p.Ser488=) rs375698520
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.1651C>T (p.Arg551Trp) rs751153662
NM_013382.5(POMT2):c.1654-6A>G rs4540995
NM_013382.5(POMT2):c.1701C>G (p.Pro567=) rs151051452
NM_013382.5(POMT2):c.1881G>A (p.Ala627=) rs146588608
NM_013382.5(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_013382.5(POMT2):c.553G>A (p.Gly185Arg) rs886050826
NM_013382.5(POMT2):c.631G>A (p.Val211Ile) rs373139592
NM_013382.5(POMT2):c.648C>T (p.Cys216=) rs147871747
NM_013382.5(POMT2):c.651C>T (p.Ala217=) rs147845081
NM_013382.5(POMT2):c.652G>A (p.Asp218Asn) rs140785104
NM_013382.5(POMT2):c.924-6C>T rs764462802

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