ClinVar Miner

List of variants in gene SGCA studied for not provided

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Gene type:
ClinVar version:
Total variants: 185
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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.1120C>T (p.Arg374Cys) rs35495899 0.00555
NM_000023.4(SGCA):c.584+162C>T rs190245746 0.00395
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.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.189C>T (p.His63=) rs373770886 0.00030
NM_000023.4(SGCA):c.662G>A (p.Arg221His) rs138254713 0.00027
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.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.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.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.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.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.313-10C>T rs569744194 0.00005
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.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.158-4C>A rs776411719 0.00003
NM_000023.4(SGCA):c.293G>A (p.Arg98His) rs137852621 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.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.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.101G>A (p.Arg34His) rs371675217 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.1131C>T (p.Ser377=) rs769951787 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.327T>C (p.Asn109=) rs752288242 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.489del (p.Leu164fs) rs753650776 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.555C>A (p.Val185=) rs201518390 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.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.957-11C>G rs1391089933 0.00001
NM_000023.4(SGCA):c.*6=
NM_000023.4(SGCA):c.-5C>G rs776195527
NM_000023.4(SGCA):c.1039_1042dup (p.Ala348fs) rs1598277713
NM_000023.4(SGCA):c.1080G>T (p.Leu360=) rs1598277856
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.115_116insT (p.Thr39fs) rs1567738897
NM_000023.4(SGCA):c.161del (p.Val54fs) rs886044516
NM_000023.4(SGCA):c.168del (p.Ala57fs) rs1555568264
NM_000023.4(SGCA):c.169G>A (p.Ala57Thr) rs769778891
NM_000023.4(SGCA):c.183dup (p.Tyr62fs) rs886044688
NM_000023.4(SGCA):c.201G>A (p.Gln67=)
NM_000023.4(SGCA):c.203del (p.Gly68fs) rs1567739228
NM_000023.4(SGCA):c.226C>T (p.Leu76Phe) rs1555568335
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.310G>A (p.Glu104Lys) rs2144494625
NM_000023.4(SGCA):c.312G>A (p.Glu104=) rs886044401
NM_000023.4(SGCA):c.317_318del (p.Thr106fs) rs1567739735
NM_000023.4(SGCA):c.322_325dup (p.Asn109fs) rs1555568518
NM_000023.4(SGCA):c.33C>T (p.Leu11=) rs762704751
NM_000023.4(SGCA):c.348_352dup (p.Gln118fs) rs752640127
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+2C>G rs112500642
NM_000023.4(SGCA):c.37+6T>C rs751466815
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.385G>A (p.Gly129Ser) rs886042692
NM_000023.4(SGCA):c.391del (p.Leu131fs) rs144356125
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter) rs780264754
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter) rs886043221
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln) rs372210292
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.488dup (p.Leu164fs) rs763986788
NM_000023.4(SGCA):c.49G>A (p.Gly17Arg) rs573792379
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.577A>T (p.Lys193Ter) rs1905125726
NM_000023.4(SGCA):c.584+156G>A rs56273576
NM_000023.4(SGCA):c.585-1G>C rs1342189589
NM_000023.4(SGCA):c.585-8G>A rs1567741108
NM_000023.4(SGCA):c.586G>A (p.Val196Ile) rs752695991
NM_000023.4(SGCA):c.600G>C (p.Val200=) rs764188161
NM_000023.4(SGCA):c.614C>T (p.Pro205Leu) rs757481230
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.676C>T (p.Gln226Ter) rs1567741398
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.747+1G>A rs886043392
NM_000023.4(SGCA):c.748-10C>A rs886042777
NM_000023.4(SGCA):c.770del (p.Pro257fs) rs886043962
NM_000023.4(SGCA):c.795del (p.Asp266fs) rs1438874821
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.864_870del (p.Asp289fs) rs2144501029
NM_000023.4(SGCA):c.882C>A (p.Leu294=) rs886044216
NM_000023.4(SGCA):c.892del (p.Leu298fs) rs886044512
NM_000023.4(SGCA):c.956+7G>A rs1598270831
NM_000023.4(SGCA):c.981_982dup (p.Asp328fs) rs796065318
NM_000023.4(SGCA):c.983+246del rs113182656
NM_000023.4(SGCA):c.988C>G (p.Gln330Glu) rs886042967
NM_001135697.3(SGCA):c.584+521del rs1220674950

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