ClinVar Miner

List of variants in gene SGCA reported by GeneDx

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Gene type:
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Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_000023.4(SGCA):c.37+66C>T rs9911548 0.99075
NM_000023.4(SGCA):c.983+240A>T rs2696294 0.96110
NM_000023.4(SGCA):c.312+83C>T rs2696297 0.83281
NM_000023.4(SGCA):c.585-222C>T rs2696296 0.61363
NM_000023.4(SGCA):c.37+298G>A rs2412299 0.53793
NM_000023.4(SGCA):c.747+212C>T rs2696295 0.53440
NM_000023.4(SGCA):c.584+229G>A rs16948744 0.40261
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.386-166G>A rs11870423 0.03655
NM_000023.4(SGCA):c.37+290G>A rs73987434 0.01040
NM_000023.4(SGCA):c.528C>T (p.Thr176=) rs1801190 0.00912
NM_000023.4(SGCA):c.38-96C>T rs148431038 0.00865
NM_000023.4(SGCA):c.984-165C>T rs143663300 0.00808
NM_000023.4(SGCA):c.984-100A>G rs116638508 0.00799
NC_000017.11:g.50165951C>A rs75145501 0.00730
NM_000023.4(SGCA):c.983+56C>A rs147162020 0.00629
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.584+162C>T rs190245746 0.00395
NM_000023.4(SGCA):c.-8G>A rs149296410 0.00248
NM_000023.4(SGCA):c.158-11G>A rs140261054 0.00157
NM_000023.4(SGCA):c.329G>A (p.Arg110Gln) rs145697858 0.00087
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.189C>T (p.His63=) rs373770886 0.00030
NM_000023.4(SGCA):c.662G>A (p.Arg221His) rs138254713 0.00027
NM_000023.4(SGCA):c.-31T>C rs199527818 0.00026
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000023.4(SGCA):c.929A>G (p.Tyr310Cys) rs145252144 0.00016
NM_000023.4(SGCA):c.-23C>T rs575518404 0.00015
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys) rs138945081 0.00014
NM_000023.4(SGCA):c.408C>T (p.Ala136=) rs143551687 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.614C>A (p.Pro205His) rs757481230 0.00005
NM_000023.4(SGCA):c.1155C>T (p.Asp385=) rs183964744 0.00004
NM_000023.4(SGCA):c.270C>T (p.Tyr90=) rs749205073 0.00004
NM_000023.4(SGCA):c.158-4C>A rs776411719 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.100C>T (p.Arg34Cys) rs758647756 0.00002
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.147T>C (p.Pro49=) rs745447270 0.00001
NM_000023.4(SGCA):c.312+19A>C rs527959287 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.502G>A (p.Gly168Arg) rs199810179 0.00001
NM_000023.4(SGCA):c.530del (p.Ser177fs) rs886041387 0.00001
NM_000023.4(SGCA):c.584+16T>C rs1054945327 0.00001
NM_000023.4(SGCA):c.600G>A (p.Val200=) rs764188161 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.957-11C>G rs1391089933 0.00001
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.33C>T (p.Leu11=) rs762704751
NM_000023.4(SGCA):c.38-198C>G rs12939159
NM_000023.4(SGCA):c.38-337C>A rs73334777
NM_000023.4(SGCA):c.38-337C>T rs73334777
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.488dup (p.Leu164fs) rs763986788
NM_000023.4(SGCA):c.541C>A (p.Arg181Ser) rs574376340
NM_000023.4(SGCA):c.584+156G>A rs56273576
NM_000023.4(SGCA):c.585-1G>C rs1342189589
NM_000023.4(SGCA):c.614C>T (p.Pro205Leu) rs757481230
NM_000023.4(SGCA):c.68C>A (p.Ala23Asp)
NM_000023.4(SGCA):c.747+161AC[17] rs3138607
NM_000023.4(SGCA):c.747+161AC[18] rs3138607
NM_000023.4(SGCA):c.747+161AC[19] rs3138607
NM_000023.4(SGCA):c.747+161AC[20] rs3138607
NM_000023.4(SGCA):c.747+161AC[21] rs3138607
NM_000023.4(SGCA):c.747+161AC[22] rs3138607
NM_000023.4(SGCA):c.819G>A (p.Pro273=) rs35972733
NM_000023.4(SGCA):c.861G>A (p.Leu287=) rs1555569293
NM_000023.4(SGCA):c.983+246del rs113182656
NM_001135697.3(SGCA):c.584+521del rs1220674950

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