ClinVar Miner

List of variants in gene SGCA reported as uncertain significance for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 194
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HGVS dbSNP gnomAD frequency
NM_000023.4(SGCA):c.843C>A (p.Ala281=) rs149487996 0.00080
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser) rs35130237 0.00056
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.172G>C (p.Val58Leu) rs141953249 0.00017
NM_000023.4(SGCA):c.929A>G (p.Tyr310Cys) rs145252144 0.00016
NM_000023.4(SGCA):c.328C>T (p.Arg110Trp) rs200137051 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.320C>T (p.Ala107Val) rs186669379 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.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.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.62C>T (p.Thr21Ile) rs199804735 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.614C>A (p.Pro205His) rs757481230 0.00005
NM_000023.4(SGCA):c.1053C>T (p.Arg351=) rs148373921 0.00004
NM_000023.4(SGCA):c.466C>T (p.Arg156Cys) rs538696245 0.00004
NM_000023.4(SGCA):c.467G>A (p.Arg156His) rs558473298 0.00004
NM_000023.4(SGCA):c.582A>C (p.Glu194Asp) rs199791980 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.307A>G (p.Ile103Val) rs370819630 0.00003
NM_000023.4(SGCA):c.34G>A (p.Val12Met) rs766209304 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.58G>T (p.Asp20Tyr) rs759284746 0.00003
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.199C>G (p.Gln67Glu) rs753180048 0.00002
NM_000023.4(SGCA):c.230G>A (p.Arg77His) rs369340251 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.*12+2T>C rs1297436069 0.00001
NM_000023.4(SGCA):c.1015G>A (p.Gly339Arg) rs540254057 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.1108C>T (p.Arg370Trp) rs368243053 0.00001
NM_000023.4(SGCA):c.1121G>A (p.Arg374His) rs150524482 0.00001
NM_000023.4(SGCA):c.1136A>G (p.Gln379Arg) rs930871528 0.00001
NM_000023.4(SGCA):c.1159C>T (p.His387Tyr) rs1905861368 0.00001
NM_000023.4(SGCA):c.131C>T (p.Thr44Met) rs770516658 0.00001
NM_000023.4(SGCA):c.190G>A (p.Ala64Thr) rs759692350 0.00001
NM_000023.4(SGCA):c.289G>C (p.Asp97His) rs774299871 0.00001
NM_000023.4(SGCA):c.354G>A (p.Gln118=) rs772233387 0.00001
NM_000023.4(SGCA):c.37+3A>G rs1370709181 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.442G>A (p.Val148Met) rs1288174276 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.506A>T (p.Glu169Val) rs376376394 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.649G>A (p.Asp217Asn) rs780564461 0.00001
NM_000023.4(SGCA):c.64G>A (p.Glu22Lys) rs753784732 0.00001
NM_000023.4(SGCA):c.658G>A (p.Ala220Thr) rs958974999 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.708G>C (p.Leu236Phe) rs1483510494 0.00001
NM_000023.4(SGCA):c.716A>G (p.His239Arg) rs398123099 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.748-3C>T rs794727834 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.89C>T (p.Pro30Leu) rs886043256 0.00001
NM_000023.4(SGCA):c.957-11C>G rs1391089933 0.00001
NM_000023.4(SGCA):c.974C>T (p.Ala325Val) rs780200261 0.00001
GRCh38/hg38 17q21.33(chr17:50169242-50170421)x0
NC_000017.10:g.(?_48252608)_(48253303_?)del
NM_000023.4(SGCA):c.-5C>G rs776195527
NM_000023.4(SGCA):c.1001A>G (p.His334Arg)
NM_000023.4(SGCA):c.1007_1009dup (p.Thr336dup) rs2144511791
NM_000023.4(SGCA):c.1010T>C (p.Ile337Thr) rs1353699486
NM_000023.4(SGCA):c.103G>A (p.Val35Ile)
NM_000023.4(SGCA):c.1041G>A (p.Met347Ile)
NM_000023.4(SGCA):c.1043C>T (p.Ala348Val)
NM_000023.4(SGCA):c.1054G>C (p.Glu352Gln) rs763372958
NM_000023.4(SGCA):c.1067C>G (p.Pro356Arg)
NM_000023.4(SGCA):c.106T>G (p.Phe36Val) rs1904989565
NM_000023.4(SGCA):c.1073C>T (p.Ser358Phe) rs1173172749
NM_000023.4(SGCA):c.1093G>C (p.Val365Leu) rs1905851242
NM_000023.4(SGCA):c.1105G>A (p.Glu369Lys)
NM_000023.4(SGCA):c.1114C>T (p.Pro372Ser)
NM_000023.4(SGCA):c.1129A>G (p.Ser377Gly) rs1376381665
NM_000023.4(SGCA):c.1148T>A (p.Ile383Asn)
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.157G>T (p.Ala53Ser)
NM_000023.4(SGCA):c.158-12C>A
NM_000023.4(SGCA):c.160G>A (p.Val54Ile) rs1485826147
NM_000023.4(SGCA):c.164C>T (p.Pro55Leu)
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.202G>A (p.Gly68Arg)
NM_000023.4(SGCA):c.208C>T (p.Pro70Ser) rs1348067599
NM_000023.4(SGCA):c.238C>G (p.Gln80Glu) rs2144494297
NM_000023.4(SGCA):c.246C>A (p.Ser82Arg) rs1598265282
NM_000023.4(SGCA):c.257C>T (p.Pro86Leu) rs2144494380
NM_000023.4(SGCA):c.271G>T (p.Gly91Cys) rs890921874
NM_000023.4(SGCA):c.279_284del (p.Thr94_Pro95del) rs1555568383
NM_000023.4(SGCA):c.284C>G (p.Pro95Arg) rs1905033797
NM_000023.4(SGCA):c.285AGA[1] (p.Glu96del) rs1555568389
NM_000023.4(SGCA):c.286G>A (p.Glu96Lys)
NM_000023.4(SGCA):c.28C>T (p.Leu10Phe)
NM_000023.4(SGCA):c.304G>A (p.Val102Ile) rs1266940329
NM_000023.4(SGCA):c.304G>T (p.Val102Phe)
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr) rs1161291343
NM_000023.4(SGCA):c.310G>A (p.Glu104Lys) rs2144494625
NM_000023.4(SGCA):c.312+11G>A
NM_000023.4(SGCA):c.312G>A (p.Glu104=) rs886044401
NM_000023.4(SGCA):c.313-3C>T rs1905060607
NM_000023.4(SGCA):c.319G>A (p.Ala107Thr)
NM_000023.4(SGCA):c.333C>A (p.Asp111Glu) rs1905064323
NM_000023.4(SGCA):c.341A>C (p.Asp114Ala) rs749097695
NM_000023.4(SGCA):c.37+5G>T
NM_000023.4(SGCA):c.37+6T>C rs751466815
NM_000023.4(SGCA):c.376G>A (p.Asp126Asn) rs1905070029
NM_000023.4(SGCA):c.37G>A (p.Val13Ile)
NM_000023.4(SGCA):c.385+5C>T
NM_000023.4(SGCA):c.388C>T (p.Pro130Ser)
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln) rs372210292
NM_000023.4(SGCA):c.421C>T (p.Arg141Cys)
NM_000023.4(SGCA):c.434C>A (p.Ala145Glu) rs372046855
NM_000023.4(SGCA):c.436G>C (p.Glu146Gln) rs1555568758
NM_000023.4(SGCA):c.448C>A (p.Pro150Thr)
NM_000023.4(SGCA):c.461C>T (p.Ala154Val) rs957820595
NM_000023.4(SGCA):c.465C>G (p.Ser155Arg) rs2144496691
NM_000023.4(SGCA):c.466C>A (p.Arg156Ser)
NM_000023.4(SGCA):c.483_484delinsCT (p.Leu161_Gly162delinsPheTrp) rs1555568788
NM_000023.4(SGCA):c.498G>C (p.Glu166Asp) rs1598267318
NM_000023.4(SGCA):c.49G>A (p.Gly17Arg) rs573792379
NM_000023.4(SGCA):c.523G>A (p.Val175Ile)
NM_000023.4(SGCA):c.52C>G (p.Leu18Val) rs1555568100
NM_000023.4(SGCA):c.541C>A (p.Arg181Ser) rs574376340
NM_000023.4(SGCA):c.541C>T (p.Arg181Cys) rs574376340
NM_000023.4(SGCA):c.542G>A (p.Arg181His)
NM_000023.4(SGCA):c.542G>T (p.Arg181Leu) rs746412103
NM_000023.4(SGCA):c.548G>T (p.Gly183Val) rs773107290
NM_000023.4(SGCA):c.550C>T (p.Arg184Cys)
NM_000023.4(SGCA):c.56G>A (p.Gly19Glu)
NM_000023.4(SGCA):c.584G>T (p.Gly195Val)
NM_000023.4(SGCA):c.586G>T (p.Val196Leu) rs752695991
NM_000023.4(SGCA):c.588_599del (p.Tyr197_Val200del) rs1555568966
NM_000023.4(SGCA):c.608C>T (p.Ala203Val)
NM_000023.4(SGCA):c.614C>T (p.Pro205Leu) rs757481230
NM_000023.4(SGCA):c.622A>G (p.Thr208Ala) rs1555568984
NM_000023.4(SGCA):c.635T>A (p.Met212Lys) rs2144498202
NM_000023.4(SGCA):c.635T>C (p.Met212Thr)
NM_000023.4(SGCA):c.644C>T (p.Ser215Phe) rs750844090
NM_000023.4(SGCA):c.646C>T (p.Pro216Ser)
NM_000023.4(SGCA):c.662G>C (p.Arg221Pro) rs138254713
NM_000023.4(SGCA):c.668C>T (p.Ala223Val)
NM_000023.4(SGCA):c.674G>A (p.Gly225Asp) rs886044540
NM_000023.4(SGCA):c.675C>T (p.Gly225=) rs773985328
NM_000023.4(SGCA):c.696C>G (p.Cys232Trp)
NM_000023.4(SGCA):c.718T>G (p.Phe240Val) rs1555569031
NM_000023.4(SGCA):c.722G>A (p.Arg241His)
NM_000023.4(SGCA):c.727G>A (p.Asp243Asn) rs1555569038
NM_000023.4(SGCA):c.731G>C (p.Trp244Ser)
NM_000023.4(SGCA):c.748-10C>A rs886042777
NM_000023.4(SGCA):c.748-11_748-10delinsAA rs2144500582
NM_000023.4(SGCA):c.749T>G (p.Val250Gly)
NM_000023.4(SGCA):c.760G>T (p.Val254Leu)
NM_000023.4(SGCA):c.772G>T (p.Ala258Ser) rs934936899
NM_000023.4(SGCA):c.781G>A (p.Val261Met) rs754703769
NM_000023.4(SGCA):c.781G>T (p.Val261Leu) rs754703769
NM_000023.4(SGCA):c.821TCT[1] (p.Phe275del) rs750086289
NM_000023.4(SGCA):c.829C>T (p.Pro277Ser) rs2144500932
NM_000023.4(SGCA):c.842C>T (p.Ala281Val) rs1905262104
NM_000023.4(SGCA):c.850C>G (p.Arg284Gly) rs137852623
NM_000023.4(SGCA):c.876_887del (p.Thr293_Val296del) rs1555569303
NM_000023.4(SGCA):c.905T>C (p.Leu302Pro)
NM_000023.4(SGCA):c.929_930del (p.Tyr310fs) rs1555569329
NM_000023.4(SGCA):c.969C>A (p.Asp323Glu) rs1309107612
NM_000023.4(SGCA):c.977C>T (p.Thr326Ile)
NM_000023.4(SGCA):c.983+1G>C
NM_000023.4(SGCA):c.985A>T (p.Ile329Phe)

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