ClinVar Miner

List of variants studied for Autosomal recessive limb-girdle muscular dystrophy type 2D by Genome-Nilou Lab

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Total variants: 116
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HGVS dbSNP gnomAD frequency
NM_000023.4(SGCA):c.37+66C>T rs9911548 0.99075
NM_000023.4(SGCA):c.*6T>C rs2696288 0.91073
NM_000023.4(SGCA):c.312+83C>T rs2696297 0.83281
NM_000023.4(SGCA):c.385+167A>G rs11868160 0.16228
NM_000023.4(SGCA):c.313-39C>A rs59944537 0.14899
NM_000023.4(SGCA):c.933C>T (p.Val311=) rs1801191 0.08920
NM_000023.4(SGCA):c.37+23G>A rs79410682 0.04614
NM_000023.4(SGCA):c.528C>T (p.Thr176=) rs1801190 0.00912
NM_000023.4(SGCA):c.*10C>G rs60300808 0.00619
NM_000023.4(SGCA):c.1120C>T (p.Arg374Cys) rs35495899 0.00555
NM_000023.4(SGCA):c.-8G>A rs149296410 0.00248
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser) rs35130237 0.00056
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) rs28933693 0.00046
NM_000023.4(SGCA):c.662G>A (p.Arg221His) rs138254713 0.00027
NM_000023.4(SGCA):c.115A>G (p.Thr39Ala) rs540292629 0.00026
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg) rs201131924 0.00024
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000023.4(SGCA):c.172G>C (p.Val58Leu) rs141953249 0.00017
NM_000023.4(SGCA):c.929A>G (p.Tyr310Cys) rs145252144 0.00016
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys) rs138945081 0.00014
NM_000023.4(SGCA):c.328C>T (p.Arg110Trp) rs200137051 0.00013
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623 0.00013
NM_000023.4(SGCA):c.981C>T (p.Ser327=) rs368522117 0.00013
NM_000023.4(SGCA):c.1076C>A (p.Thr359Asn) rs146924667 0.00010
NM_000023.4(SGCA):c.1051C>T (p.Arg351Cys) rs143365858 0.00009
NM_000023.4(SGCA):c.155T>G (p.Val52Gly) rs148132791 0.00009
NM_000023.4(SGCA):c.312+6G>A rs371433770 0.00007
NM_000023.4(SGCA):c.350G>A (p.Arg117Gln) rs117672945 0.00007
NM_000023.4(SGCA):c.766G>A (p.Glu256Lys) rs746698767 0.00007
NM_000023.4(SGCA):c.1063C>T (p.Arg355Trp) rs766855169 0.00006
NM_000023.4(SGCA):c.349C>T (p.Arg117Trp) rs200075504 0.00006
NM_000023.4(SGCA):c.657C>T (p.His219=) rs747684069 0.00006
NM_000023.4(SGCA):c.575G>A (p.Arg192Gln) rs200945974 0.00005
NM_000023.4(SGCA):c.1155C>T (p.Asp385=) rs183964744 0.00004
NM_000023.4(SGCA):c.466C>T (p.Arg156Cys) rs538696245 0.00004
NM_000023.4(SGCA):c.582A>C (p.Glu194Asp) rs199791980 0.00004
NM_000023.4(SGCA):c.1091A>G (p.Asn364Ser) rs756912039 0.00003
NM_000023.4(SGCA):c.1133C>T (p.Ala378Val) rs751466306 0.00003
NM_000023.4(SGCA):c.158-4C>A rs776411719 0.00003
NM_000023.4(SGCA):c.221G>A (p.Arg74Gln) rs779439298 0.00003
NM_000023.4(SGCA):c.293G>A (p.Arg98His) rs137852621 0.00003
NM_000023.4(SGCA):c.34G>A (p.Val12Met) rs766209304 0.00003
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr) rs768814872 0.00003
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro) rs143962150 0.00003
NM_000023.4(SGCA):c.58G>T (p.Asp20Tyr) rs759284746 0.00003
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys) rs758647756 0.00002
NM_000023.4(SGCA):c.1109G>A (p.Arg370Gln) rs779834721 0.00002
NM_000023.4(SGCA):c.1132G>A (p.Ala378Thr) rs375692868 0.00002
NM_000023.4(SGCA):c.230G>A (p.Arg77His) rs369340251 0.00002
NM_000023.4(SGCA):c.312+5C>T rs377006294 0.00002
NM_000023.4(SGCA):c.724G>A (p.Val242Ile) rs200166783 0.00002
NM_000023.4(SGCA):c.1015G>A (p.Gly339Arg) rs540254057 0.00001
NM_000023.4(SGCA):c.101G>A (p.Arg34His) rs371675217 0.00001
NM_000023.4(SGCA):c.1035G>A (p.Arg345=) rs374989747 0.00001
NM_000023.4(SGCA):c.1108C>T (p.Arg370Trp) rs368243053 0.00001
NM_000023.4(SGCA):c.1121G>A (p.Arg374His) rs150524482 0.00001
NM_000023.4(SGCA):c.131C>T (p.Thr44Met) rs770516658 0.00001
NM_000023.4(SGCA):c.147T>C (p.Pro49=) rs745447270 0.00001
NM_000023.4(SGCA):c.157+1G>A rs113109898 0.00001
NM_000023.4(SGCA):c.190G>A (p.Ala64Thr) rs759692350 0.00001
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp) rs757888349 0.00001
NM_000023.4(SGCA):c.312+19A>C rs527959287 0.00001
NM_000023.4(SGCA):c.313-2A>G rs1057516650 0.00001
NM_000023.4(SGCA):c.37+3A>G rs1370709181 0.00001
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys) rs372210292 0.00001
NM_000023.4(SGCA):c.422G>A (p.Arg141His) rs1325350236 0.00001
NM_000023.4(SGCA):c.430G>A (p.Asp144Asn) rs771485989 0.00001
NM_000023.4(SGCA):c.488G>C (p.Gly163Ala) rs1356585975 0.00001
NM_000023.4(SGCA):c.502G>A (p.Gly168Arg) rs199810179 0.00001
NM_000023.4(SGCA):c.530del (p.Ser177fs) rs886041387 0.00001
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter) rs387907298 0.00001
NM_000023.4(SGCA):c.585-1G>A rs1342189589 0.00001
NM_000023.4(SGCA):c.592A>G (p.Ile198Val) rs375463037 0.00001
NM_000023.4(SGCA):c.600G>A (p.Val200=) rs764188161 0.00001
NM_000023.4(SGCA):c.700G>A (p.Asp234Asn) rs760608643 0.00001
NM_000023.4(SGCA):c.716A>G (p.His239Arg) rs398123099 0.00001
NM_000023.4(SGCA):c.737A>G (p.Asn246Ser) rs886042858 0.00001
NM_000023.4(SGCA):c.748-2A>T rs1412537279 0.00001
NM_000023.4(SGCA):c.748-3C>T rs794727834 0.00001
NM_000023.4(SGCA):c.847G>C (p.Asp283His) rs766674286 0.00001
NM_000023.4(SGCA):c.89C>T (p.Pro30Leu) rs886043256 0.00001
NM_000023.4(SGCA):c.-5C>G rs776195527
NM_000023.4(SGCA):c.1054G>T (p.Glu352Ter) rs763372958
NM_000023.4(SGCA):c.1129A>G (p.Ser377Gly) rs1376381665
NM_000023.4(SGCA):c.1153_1163del (p.Asp385fs) rs1487379783
NM_000023.4(SGCA):c.13C>G (p.Leu5Val) rs2144488329
NM_000023.4(SGCA):c.160G>A (p.Val54Ile) rs1485826147
NM_000023.4(SGCA):c.168del (p.Ala57fs) rs1555568264
NM_000023.4(SGCA):c.169G>A (p.Ala57Thr) rs769778891
NM_000023.4(SGCA):c.203del (p.Gly68fs) rs1567739228
NM_000023.4(SGCA):c.226C>T (p.Leu76Phe) rs1555568335
NM_000023.4(SGCA):c.310G>A (p.Glu104Lys) rs2144494625
NM_000023.4(SGCA):c.312G>A (p.Glu104=) rs886044401
NM_000023.4(SGCA):c.313_319del (p.Val105Profs)
NM_000023.4(SGCA):c.322_325dup (p.Asn109fs) rs1555568518
NM_000023.4(SGCA):c.341A>C (p.Asp114Ala) rs749097695
NM_000023.4(SGCA):c.348_352dup (p.Gln118fs) rs752640127
NM_000023.4(SGCA):c.37+6T>C rs751466815
NM_000023.4(SGCA):c.38-46G>C rs142537375
NM_000023.4(SGCA):c.386-16del rs556088617
NM_000023.4(SGCA):c.391del (p.Leu131fs) rs144356125
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter) rs886043221
NM_000023.4(SGCA):c.464del (p.Ser155fs) rs1555568775
NM_000023.4(SGCA):c.483_484delinsCT (p.Leu161_Gly162delinsPheTrp) rs1555568788
NM_000023.4(SGCA):c.488dup (p.Leu164fs) rs763986788
NM_000023.4(SGCA):c.541C>T (p.Arg181Cys) rs574376340
NM_000023.4(SGCA):c.61_62insG (p.Thr21fs) rs2144493097
NM_000023.4(SGCA):c.674G>A (p.Gly225Asp) rs886044540
NM_000023.4(SGCA):c.676C>T (p.Gln226Ter) rs1567741398
NM_000023.4(SGCA):c.724G>T (p.Val242Phe) rs200166783
NM_000023.4(SGCA):c.747+1G>A rs886043392
NM_000023.4(SGCA):c.781G>T (p.Val261Leu) rs754703769
NM_000023.4(SGCA):c.790_791dup (p.Gly265fs) rs1905254738
NM_000023.4(SGCA):c.819G>A (p.Pro273=) rs35972733
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro) rs903823830
NM_000023.4(SGCA):c.956+2_956+19del rs1555569342

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