ClinVar Miner

List of variants studied for autosomal recessive limb-girdle muscular dystrophy type 2D by Natera, Inc.

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_000023.4(SGCA):c.*6T>C rs2696288 0.91073
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.843C>A (p.Ala281=) rs149487996 0.00080
NM_000023.4(SGCA):c.366G>A (p.Leu122=) rs147739328 0.00075
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser) rs35130237 0.00056
NM_000023.4(SGCA):c.690G>C (p.Leu230=) rs139454982 0.00049
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) rs28933693 0.00046
NM_000023.4(SGCA):c.1047C>T (p.Ala349=) rs199518562 0.00038
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.37+10G>T rs200626376 0.00019
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.408C>T (p.Ala136=) rs143551687 0.00013
NM_000023.4(SGCA):c.819G>T (p.Pro273=) rs35972733 0.00013
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623 0.00013
NM_000023.4(SGCA):c.1076C>A (p.Thr359Asn) rs146924667 0.00010
NM_000023.4(SGCA):c.320C>T (p.Ala107Val) rs186669379 0.00010
NM_000023.4(SGCA):c.155T>G (p.Val52Gly) rs148132791 0.00009
NM_000023.4(SGCA):c.764C>T (p.Pro255Leu) rs138019537 0.00009
NM_000023.4(SGCA):c.983A>T (p.Asp328Val) rs966135192 0.00008
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.349C>T (p.Arg117Trp) rs200075504 0.00006
NM_000023.4(SGCA):c.575G>A (p.Arg192Gln) rs200945974 0.00005
NM_000023.4(SGCA):c.1053C>T (p.Arg351=) rs148373921 0.00004
NM_000023.4(SGCA):c.869C>T (p.Ala290Val) rs373312721 0.00004
NM_000023.4(SGCA):c.90A>G (p.Pro30=) rs754840688 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.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.522C>T (p.Asn174=) rs148960833 0.00003
NM_000023.4(SGCA):c.551G>A (p.Arg184His) rs142169382 0.00003
NM_000023.4(SGCA):c.1132G>A (p.Ala378Thr) rs375692868 0.00002
NM_000023.4(SGCA):c.242G>A (p.Arg81His) rs747984529 0.00002
NM_000023.4(SGCA):c.312+5C>T rs377006294 0.00002
NM_000023.4(SGCA):c.58G>A (p.Asp20Asn) rs759284746 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.1034G>A (p.Arg345Gln) rs771876078 0.00001
NM_000023.4(SGCA):c.1064G>A (p.Arg355Gln) rs1270625423 0.00001
NM_000023.4(SGCA):c.131C>T (p.Thr44Met) rs770516658 0.00001
NM_000023.4(SGCA):c.132G>A (p.Thr44=) rs886044035 0.00001
NM_000023.4(SGCA):c.289G>C (p.Asp97His) rs774299871 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.430G>A (p.Asp144Asn) rs771485989 0.00001
NM_000023.4(SGCA):c.555C>A (p.Val185=) rs201518390 0.00001
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter) rs387907298 0.00001
NM_000023.4(SGCA):c.591C>T (p.Tyr197=) rs756137267 0.00001
NM_000023.4(SGCA):c.592A>G (p.Ile198Val) rs375463037 0.00001
NM_000023.4(SGCA):c.64G>A (p.Glu22Lys) rs753784732 0.00001
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys) rs748936034 0.00001
NM_000023.4(SGCA):c.700G>A (p.Asp234Asn) rs760608643 0.00001
NM_000023.4(SGCA):c.721C>T (p.Arg241Cys) rs753972912 0.00001
NM_000023.4(SGCA):c.737A>G (p.Asn246Ser) rs886042858 0.00001
NM_000023.4(SGCA):c.747+3G>A rs368388538 0.00001
NM_000023.4(SGCA):c.80C>T (p.Thr27Met) rs565069721 0.00001
NM_000023.4(SGCA):c.847G>C (p.Asp283His) rs766674286 0.00001
NM_000023.4(SGCA):c.851G>A (p.Arg284His) rs369359375 0.00001
NM_000023.4(SGCA):c.974C>T (p.Ala325Val) rs780200261 0.00001
NM_000023.4(SGCA):c.169G>A (p.Ala57Thr) rs769778891
NM_000023.4(SGCA):c.187C>T (p.His63Tyr) rs1905021704
NM_000023.4(SGCA):c.304G>A (p.Val102Ile) rs1266940329
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.402C>G (p.Tyr134Ter) rs780264754
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln) rs372210292
NM_000023.4(SGCA):c.488dup (p.Leu164fs) rs763986788
NM_000023.4(SGCA):c.49G>A (p.Gly17Arg) rs573792379
NM_000023.4(SGCA):c.52C>G (p.Leu18Val) rs1555568100
NM_000023.4(SGCA):c.541C>T (p.Arg181Cys) rs574376340
NM_000023.4(SGCA):c.675C>T (p.Gly225=) rs773985328
NM_000023.4(SGCA):c.724G>T (p.Val242Phe) rs200166783
NM_000023.4(SGCA):c.781G>A (p.Val261Met) rs754703769
NM_000023.4(SGCA):c.850C>G (p.Arg284Gly) rs137852623
NM_000023.4(SGCA):c.957-1G>T rs2144502043
NM_000023.4(SGCA):c.969C>A (p.Asp323Glu) rs1309107612

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