ClinVar Miner

List of variants reported as uncertain significance for Autosomal recessive limb-girdle muscular dystrophy type 2N by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_013382.7(POMT2):c.*176C>T rs143803905 0.00265
NM_013382.7(POMT2):c.1332+13C>T rs142916824 0.00211
NM_013382.7(POMT2):c.*606G>A rs141262145 0.00173
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.*1603C>T rs139267307 0.00111
NM_013382.7(POMT2):c.*2072C>T rs558857629 0.00107
NM_013382.7(POMT2):c.*758G>A rs371632843 0.00083
NM_013382.7(POMT2):c.-142C>T rs886050827 0.00068
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.*196G>A rs773072355 0.00034
NM_013382.7(POMT2):c.*1805G>A rs184473107 0.00033
NM_013382.7(POMT2):c.*622C>G rs886050819 0.00024
NM_013382.7(POMT2):c.*2165T>C rs770272986 0.00022
NM_013382.7(POMT2):c.*1252C>A rs569143920 0.00020
NM_013382.7(POMT2):c.*2053C>A rs759715686 0.00019
NM_013382.7(POMT2):c.1321G>A (p.Gly441Ser) rs199743727 0.00016
NM_013382.7(POMT2):c.648C>T (p.Cys216=) rs147871747 0.00013
NM_013382.7(POMT2):c.*1724C>T rs45510397 0.00011
NM_013382.7(POMT2):c.1250A>G (p.Lys417Arg) rs147268052 0.00011
NM_013382.7(POMT2):c.*693C>G rs752332125 0.00010
NM_013382.7(POMT2):c.-149C>A rs886050828 0.00010
NM_013382.7(POMT2):c.*1749C>A rs543216671 0.00009
NM_013382.7(POMT2):c.*727C>T rs980293755 0.00009
NM_013382.7(POMT2):c.*766C>T rs552352814 0.00009
NM_013382.7(POMT2):c.*1548G>A rs902166672 0.00006
NM_013382.7(POMT2):c.*1818T>C rs1010549526 0.00006
NM_013382.7(POMT2):c.*637C>G rs1327896686 0.00006
NM_013382.7(POMT2):c.1396C>T (p.Arg466Trp) rs763119319 0.00006
NM_013382.7(POMT2):c.*2200G>A rs1037547422 0.00005
NM_013382.7(POMT2):c.*289G>A rs886050823 0.00005
NM_013382.7(POMT2):c.*601G>A rs150190025 0.00005
NM_013382.7(POMT2):c.*119T>C rs886050824 0.00004
NM_013382.7(POMT2):c.*11A>G rs373236103 0.00004
NM_013382.7(POMT2):c.*1265T>G rs886050816 0.00004
NM_013382.7(POMT2):c.*2359A>T rs564345093 0.00004
NM_013382.7(POMT2):c.*809G>A rs1035134599 0.00004
NM_013382.7(POMT2):c.1692G>A (p.Thr564=) rs183828175 0.00004
NM_013382.7(POMT2):c.631G>A (p.Val211Ile) rs373139592 0.00004
NM_013382.7(POMT2):c.*349G>A rs886050822 0.00003
NM_013382.7(POMT2):c.*927G>C rs886050818 0.00003
NM_013382.7(POMT2):c.553G>A (p.Gly185Arg) rs886050826 0.00003
NM_013382.7(POMT2):c.*1053A>G rs886050817 0.00002
NM_013382.7(POMT2):c.1105C>T (p.Arg369Cys) rs779190087 0.00002
NM_013382.7(POMT2):c.1651C>T (p.Arg551Trp) rs751153662 0.00002
NM_013382.7(POMT2):c.*1285T>C rs886050815 0.00001
NM_013382.7(POMT2):c.*1579C>A rs780717261 0.00001
NM_013382.7(POMT2):c.*2381A>G rs993351501 0.00001
NM_013382.7(POMT2):c.*316C>G rs1460121683 0.00001
NM_013382.7(POMT2):c.*597C>T rs886050820 0.00001
NM_013382.7(POMT2):c.1183+6G>C rs1381239018 0.00001
NM_013382.7(POMT2):c.1186C>T (p.Pro396Ser) rs764723711 0.00001
NM_013382.7(POMT2):c.1274G>C (p.Ser425Thr) rs774466835 0.00001
NM_013382.7(POMT2):c.50G>C (p.Arg17Pro) rs753326186 0.00001
NM_013382.7(POMT2):c.651C>T (p.Ala217=) rs147845081 0.00001
NM_013382.7(POMT2):c.891C>A (p.Thr297=) rs769829396 0.00001
NM_013382.7(POMT2):c.924-6C>T rs764462802 0.00001
NM_013382.7(POMT2):c.*103C>T rs886050825
NM_013382.7(POMT2):c.*1043C>T rs373396403
NM_013382.7(POMT2):c.*1317A>G rs144329117
NM_013382.7(POMT2):c.*1317A>T rs144329117
NM_013382.7(POMT2):c.*1474G>A rs749841763
NM_013382.7(POMT2):c.*15T>C rs538140316
NM_013382.7(POMT2):c.*1610T>C rs886050814
NM_013382.7(POMT2):c.*1641C>T rs151201281
NM_013382.7(POMT2):c.*1734A>C rs1889915019
NM_013382.7(POMT2):c.*1774C>T rs1889911263
NM_013382.7(POMT2):c.*186C>G rs547018226
NM_013382.7(POMT2):c.*1906G>A rs1429067153
NM_013382.7(POMT2):c.*2077T>C rs1889895782
NM_013382.7(POMT2):c.*2080G>A rs1889895704
NM_013382.7(POMT2):c.*2093A>G rs528818473
NM_013382.7(POMT2):c.*2151A>G rs45579739
NM_013382.7(POMT2):c.*574T>C rs574135706
NM_013382.7(POMT2):c.*594G>A rs886050821
NM_013382.7(POMT2):c.*605C>G rs186897393
NM_013382.7(POMT2):c.*605C>T rs186897393
NM_013382.7(POMT2):c.-113G>A rs1891868176
NM_013382.7(POMT2):c.-136G>A rs1891870150
NM_013382.7(POMT2):c.-172C>A rs897215490
NM_013382.7(POMT2):c.-176C>G rs978645827
NM_013382.7(POMT2):c.1133A>G (p.His378Arg) rs867000155
NM_013382.7(POMT2):c.1367T>C (p.Ile456Thr) rs1890397099
NM_013382.7(POMT2):c.1464G>A (p.Ser488=) rs375698520
NM_013382.7(POMT2):c.1576+10G>T rs756884609
NM_013382.7(POMT2):c.1725+13G>C rs1890173997
NM_013382.7(POMT2):c.1793G>A (p.Trp598Ter) rs1566644018
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_013382.7(POMT2):c.547+14G>T rs1404659015
NM_013382.7(POMT2):c.90C>T (p.Gly30=) rs923004188

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