ClinVar Miner

List of variants in gene SGCA reported as uncertain significance by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 85
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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.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.189C>T (p.His63=) rs373770886 0.00030
NM_000023.4(SGCA):c.984-10G>A rs369385261 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.408C>T (p.Ala136=) rs143551687 0.00013
NM_000023.4(SGCA):c.819G>T (p.Pro273=) rs35972733 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.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.62C>T (p.Thr21Ile) rs199804735 0.00006
NM_000023.4(SGCA):c.657C>T (p.His219=) rs747684069 0.00006
NM_000023.4(SGCA):c.313-10C>T rs569744194 0.00005
NM_000023.4(SGCA):c.789C>A (p.Thr263=) rs769688229 0.00005
NM_000023.4(SGCA):c.270C>T (p.Tyr90=) rs749205073 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.34G>A (p.Val12Met) rs766209304 0.00003
NM_000023.4(SGCA):c.58G>T (p.Asp20Tyr) rs759284746 0.00003
NM_000023.4(SGCA):c.1027G>A (p.Glu343Lys) rs201625981 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.197T>A (p.Leu66His) rs767928766 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.402C>T (p.Tyr134=) rs780264754 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.1052G>A (p.Arg351His) rs765429436 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.132G>A (p.Thr44=) rs886044035 0.00001
NM_000023.4(SGCA):c.157G>A (p.Ala53Thr) rs60407644 0.00001
NM_000023.4(SGCA):c.190G>A (p.Ala64Thr) rs759692350 0.00001
NM_000023.4(SGCA):c.272G>A (p.Gly91Asp) rs886044465 0.00001
NM_000023.4(SGCA):c.502G>A (p.Gly168Arg) rs199810179 0.00001
NM_000023.4(SGCA):c.555C>A (p.Val185=) rs201518390 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.716A>G (p.His239Arg) rs398123099 0.00001
NM_000023.4(SGCA):c.737A>G (p.Asn246Ser) rs886042858 0.00001
NM_000023.4(SGCA):c.748-3C>T rs794727834 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.89C>T (p.Pro30Leu) rs886043256 0.00001
NM_000023.4(SGCA):c.-5C>G rs776195527
NM_000023.4(SGCA):c.111G>A (p.Val37=) rs1567738869
NM_000023.4(SGCA):c.1153_1163del (p.Asp385fs) rs1487379783
NM_000023.4(SGCA):c.241C>T (p.Arg81Cys) rs398123098
NM_000023.4(SGCA):c.293G>C (p.Arg98Pro) rs137852621
NM_000023.4(SGCA):c.312G>A (p.Glu104=) rs886044401
NM_000023.4(SGCA):c.359T>G (p.Leu120Arg) rs886042335
NM_000023.4(SGCA):c.364C>G (p.Leu122Val) rs1567739857
NM_000023.4(SGCA):c.37+6T>C rs751466815
NM_000023.4(SGCA):c.385G>A (p.Gly129Ser) rs886042692
NM_000023.4(SGCA):c.450C>T (p.Pro150=) rs886042559
NM_000023.4(SGCA):c.468C>T (p.Arg156=) rs750297310
NM_000023.4(SGCA):c.483_484delinsCT (p.Leu161_Gly162delinsPheTrp) rs1555568788
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.559C>T (p.Leu187Phe) rs886044382
NM_000023.4(SGCA):c.585-8G>A rs1567741108
NM_000023.4(SGCA):c.586G>A (p.Val196Ile) rs752695991
NM_000023.4(SGCA):c.623C>T (p.Thr208Ile) rs886043193
NM_000023.4(SGCA):c.626G>A (p.Cys209Tyr) rs1555568985
NM_000023.4(SGCA):c.650A>G (p.Asp217Gly) rs995113451
NM_000023.4(SGCA):c.662G>C (p.Arg221Pro) rs138254713
NM_000023.4(SGCA):c.674G>A (p.Gly225Asp) rs886044540
NM_000023.4(SGCA):c.748-10C>A rs886042777
NM_000023.4(SGCA):c.811C>T (p.His271Tyr) rs886044015
NM_000023.4(SGCA):c.85C>T (p.His29Tyr) rs1555568133
NM_000023.4(SGCA):c.861G>A (p.Leu287=) rs1555569293
NM_000023.4(SGCA):c.882C>A (p.Leu294=) rs886044216
NM_000023.4(SGCA):c.988C>G (p.Gln330Glu) rs886042967

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