ClinVar Miner

List of variants studied for Autosomal recessive limb-girdle muscular dystrophy type 2C by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 392
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HGVS dbSNP gnomAD frequency
NM_000231.3(SGCG):c.860A>G (p.Asn287Ser) rs1800354 0.83747
NM_000231.3(SGCG):c.705T>C (p.Leu235=) rs1800353 0.60006
NM_000231.3(SGCG):c.312T>G (p.Leu104=) rs1800351 0.47318
NM_000231.3(SGCG):c.860= (p.Asn287=) rs1800354 0.15696
NM_000231.3(SGCG):c.228T>C (p.Asp76=) rs1800350 0.15152
NM_000231.3(SGCG):c.347G>A (p.Arg116His) rs17314986 0.09986
NM_000231.3(SGCG):c.703-18T>C rs9580603 0.03771
NM_000231.3(SGCG):c.435C>T (p.Asn145=) rs35628352 0.00973
NM_000231.3(SGCG):c.539A>T (p.Glu180Val) rs114160429 0.00101
NM_000231.3(SGCG):c.505+15G>A rs144143366 0.00054
NM_000231.3(SGCG):c.58A>G (p.Asn20Asp) rs763248287 0.00054
NM_000231.3(SGCG):c.832G>A (p.Gly278Ser) rs147820869 0.00044
NM_000231.3(SGCG):c.157C>T (p.Leu53Phe) rs138880406 0.00036
NM_000231.3(SGCG):c.716C>T (p.Ala239Val) rs149086397 0.00036
NM_000231.3(SGCG):c.196-16T>C rs370930080 0.00032
NM_000231.3(SGCG):c.8G>A (p.Arg3His) rs35105771 0.00031
NM_000231.3(SGCG):c.235C>T (p.Arg79Cys) rs148404730 0.00027
NM_000231.3(SGCG):c.579-17T>G rs368025607 0.00020
NM_000231.3(SGCG):c.196-3C>T rs765273430 0.00016
NM_000231.3(SGCG):c.596G>A (p.Arg199Gln) rs200191311 0.00016
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys) rs104894423 0.00016
NM_000231.3(SGCG):c.438C>T (p.Asp146=) rs144497243 0.00015
NM_000231.3(SGCG):c.379A>C (p.Lys127Gln) rs368149615 0.00013
NM_000231.3(SGCG):c.578+14T>C rs754696173 0.00013
NM_000231.3(SGCG):c.803C>T (p.Pro268Leu) rs143110015 0.00012
NM_000231.3(SGCG):c.102C>T (p.Arg34=) rs140810408 0.00011
NM_000231.3(SGCG):c.354A>G (p.Ser118=) rs376184429 0.00011
NM_000231.3(SGCG):c.653T>C (p.Ile218Thr) rs202045534 0.00011
NM_000231.3(SGCG):c.615C>A (p.Ala205=) rs142409090 0.00010
NM_000231.3(SGCG):c.722C>T (p.Thr241Ile) rs1265119318 0.00010
NM_000231.3(SGCG):c.17A>G (p.Tyr6Cys) rs148041867 0.00009
NM_000231.3(SGCG):c.506-7T>G rs774582375 0.00009
NM_000231.3(SGCG):c.142G>A (p.Val48Ile) rs369936288 0.00008
NM_000231.3(SGCG):c.497G>A (p.Arg166Gln) rs776289036 0.00008
NM_000231.3(SGCG):c.455C>T (p.Thr152Ile) rs201329880 0.00007
NM_000231.3(SGCG):c.564G>A (p.Pro188=) rs367595212 0.00007
NM_000231.3(SGCG):c.642C>T (p.His214=) rs528994151 0.00007
NM_000231.3(SGCG):c.792C>G (p.Ile264Met) rs377620885 0.00007
NM_000231.3(SGCG):c.302C>T (p.Ser101Leu) rs886042370 0.00006
NM_000231.3(SGCG):c.436G>A (p.Asp146Asn) rs373442790 0.00006
NM_000231.3(SGCG):c.82A>C (p.Ile28Leu) rs999585272 0.00006
NM_000231.3(SGCG):c.505+6T>C rs372684728 0.00005
NM_000231.3(SGCG):c.703-16A>G rs376682352 0.00005
NM_000231.3(SGCG):c.824C>T (p.Ser275Phe) rs780747031 0.00005
NM_000231.3(SGCG):c.195+1G>C rs200502077 0.00004
NM_000231.3(SGCG):c.303A>C (p.Ser101=) rs144277094 0.00004
NM_000231.3(SGCG):c.371G>T (p.Gly124Val) rs183204936 0.00004
NM_000231.3(SGCG):c.414A>G (p.Gln138=) rs770596449 0.00004
NM_000231.3(SGCG):c.439G>A (p.Gly147Ser) rs374836520 0.00004
NM_000231.3(SGCG):c.579-15_579-12dup rs1178505346 0.00004
NM_000231.3(SGCG):c.670A>G (p.Met224Val) rs372188878 0.00004
NM_000231.3(SGCG):c.808G>A (p.Gly270Arg) rs767191084 0.00004
NM_000231.3(SGCG):c.270G>T (p.Leu90Phe) rs368524463 0.00003
NM_000231.3(SGCG):c.333G>A (p.Val111=) rs775265377 0.00003
NM_000231.3(SGCG):c.345G>A (p.Ala115=) rs1800352 0.00003
NM_000231.3(SGCG):c.46G>C (p.Glu16Gln) rs546543109 0.00003
NM_000231.3(SGCG):c.558C>T (p.Ala186=) rs766503990 0.00003
NM_000231.3(SGCG):c.660G>A (p.Ala220=) rs550268354 0.00003
NM_000231.3(SGCG):c.708G>A (p.Val236=) rs899136360 0.00003
NM_000231.3(SGCG):c.753G>A (p.Thr251=) rs748332364 0.00003
NM_000231.3(SGCG):c.784T>C (p.Tyr262His) rs776357413 0.00003
NM_000231.3(SGCG):c.180G>A (p.Val60=) rs919571338 0.00002
NM_000231.3(SGCG):c.236G>A (p.Arg79His) rs375766013 0.00002
NM_000231.3(SGCG):c.324C>A (p.Thr108=) rs747220624 0.00002
NM_000231.3(SGCG):c.386-1G>A rs913248720 0.00002
NM_000231.3(SGCG):c.399A>G (p.Val133=) rs747909634 0.00002
NM_000231.3(SGCG):c.407A>G (p.Gln136Arg) rs569816696 0.00002
NM_000231.3(SGCG):c.479T>C (p.Val160Ala) rs527562042 0.00002
NM_000231.3(SGCG):c.535G>A (p.Val179Met) rs139072866 0.00002
NM_000231.3(SGCG):c.623G>T (p.Gly208Val) rs778119056 0.00002
NM_000231.3(SGCG):c.703C>T (p.Leu235Phe) rs763780768 0.00002
NM_000231.3(SGCG):c.735C>T (p.Pro245=) rs373785384 0.00002
NM_000231.3(SGCG):c.77T>C (p.Ile26Thr) rs886043151 0.00002
NM_000231.3(SGCG):c.7C>T (p.Arg3Cys) rs140310896 0.00002
NM_000231.3(SGCG):c.-1+5G>A rs1394135402 0.00001
NM_000231.3(SGCG):c.101G>A (p.Arg34His) rs755404457 0.00001
NM_000231.3(SGCG):c.111C>T (p.Tyr37=) rs775643720 0.00001
NM_000231.3(SGCG):c.120T>C (p.Val40=) rs1022001256 0.00001
NM_000231.3(SGCG):c.137T>G (p.Ile46Ser) rs1019389043 0.00001
NM_000231.3(SGCG):c.138C>T (p.Ile46=) rs1329079936 0.00001
NM_000231.3(SGCG):c.158T>C (p.Leu53Pro) rs781760379 0.00001
NM_000231.3(SGCG):c.190T>C (p.Ser64Pro) rs886042587 0.00001
NM_000231.3(SGCG):c.195+5G>A rs532463691 0.00001
NM_000231.3(SGCG):c.196-10T>G rs759238812 0.00001
NM_000231.3(SGCG):c.196-11T>C rs1879238085 0.00001
NM_000231.3(SGCG):c.196-6T>A rs1165407566 0.00001
NM_000231.3(SGCG):c.196-9T>G rs1218168404 0.00001
NM_000231.3(SGCG):c.197C>A (p.Ala66Glu) rs752603127 0.00001
NM_000231.3(SGCG):c.22A>G (p.Thr8Ala) rs771657671 0.00001
NM_000231.3(SGCG):c.234G>A (p.Leu78=) rs1879241633 0.00001
NM_000231.3(SGCG):c.237C>T (p.Arg79=) rs201144588 0.00001
NM_000231.3(SGCG):c.267A>G (p.Pro89=) rs149595403 0.00001
NM_000231.3(SGCG):c.291C>T (p.Ser97=) rs749843245 0.00001
NM_000231.3(SGCG):c.297+10T>C rs1879245855 0.00001
NM_000231.3(SGCG):c.315A>G (p.Leu105=) rs779550455 0.00001
NM_000231.3(SGCG):c.318A>G (p.Gln106=) rs371622125 0.00001
NM_000231.3(SGCG):c.326A>G (p.Gln109Arg) rs201514102 0.00001
NM_000231.3(SGCG):c.342dup (p.Ala115fs) rs1262459682 0.00001
NM_000231.3(SGCG):c.346C>T (p.Arg116Cys) rs191040430 0.00001
NM_000231.3(SGCG):c.385+11C>G rs749127873 0.00001
NM_000231.3(SGCG):c.385+16T>C rs953267698 0.00001
NM_000231.3(SGCG):c.385+20G>T rs774091898 0.00001
NM_000231.3(SGCG):c.385+2T>C rs200206447 0.00001
NM_000231.3(SGCG):c.392A>G (p.Lys131Arg) rs544414698 0.00001
NM_000231.3(SGCG):c.440G>A (p.Gly147Asp) rs767605031 0.00001
NM_000231.3(SGCG):c.450A>G (p.Leu150=) rs369191957 0.00001
NM_000231.3(SGCG):c.456T>C (p.Thr152=) rs1047364666 0.00001
NM_000231.3(SGCG):c.477G>A (p.Val159=) rs1475965743 0.00001
NM_000231.3(SGCG):c.501A>T (p.Val167=) rs560640452 0.00001
NM_000231.3(SGCG):c.505+3A>G rs1881219940 0.00001
NM_000231.3(SGCG):c.506-6G>A rs1347438845 0.00001
NM_000231.3(SGCG):c.522T>C (p.Leu174=) rs146679977 0.00001
NM_000231.3(SGCG):c.540G>A (p.Glu180=) rs1384341355 0.00001
NM_000231.3(SGCG):c.559del (p.Asp187fs) rs1484553312 0.00001
NM_000231.3(SGCG):c.578+13G>A rs370355474 0.00001
NM_000231.3(SGCG):c.578+7A>G rs1881872240 0.00001
NM_000231.3(SGCG):c.578+8T>C rs1359141230 0.00001
NM_000231.3(SGCG):c.579-6T>C rs753444436 0.00001
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser) rs547818652 0.00001
NM_000231.3(SGCG):c.594T>C (p.Thr198=) rs1174279330 0.00001
NM_000231.3(SGCG):c.595C>T (p.Arg199Trp) rs1405454039 0.00001
NM_000231.3(SGCG):c.605G>C (p.Ser202Thr) rs1383227062 0.00001
NM_000231.3(SGCG):c.625G>T (p.Val209Leu) rs563129062 0.00001
NM_000231.3(SGCG):c.629A>G (p.His210Arg) rs1045567625 0.00001
NM_000231.3(SGCG):c.66T>C (p.Tyr22=) rs376410504 0.00001
NM_000231.3(SGCG):c.690T>C (p.Ser230=) rs875989949 0.00001
NM_000231.3(SGCG):c.702+15A>G rs1220492352 0.00001
NM_000231.3(SGCG):c.753G>C (p.Thr251=) rs748332364 0.00001
NM_000231.3(SGCG):c.781C>G (p.Leu261Val) rs1460327315 0.00001
NM_000231.3(SGCG):c.786C>T (p.Tyr262=) rs759316719 0.00001
NM_000231.3(SGCG):c.831C>T (p.Ala277=) rs754112406 0.00001
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr) rs104894422 0.00001
NM_000231.3(SGCG):c.868T>G (p.Cys290Gly) rs1452539449 0.00001
NM_000231.3(SGCG):c.87T>C (p.Tyr29=) rs1196026821 0.00001
NM_000231.3(SGCG):c.87dup (p.Gly30fs) rs762777463 0.00001
NC_000013.10:g.(?_23667335)_(23778038_?)dup
NC_000013.10:g.(?_23667335)_(23869646_?)dup
NC_000013.10:g.(?_23667335)_(23894909_?)dup
NC_000013.10:g.(?_23667335)_(23985388_?)dup
NC_000013.10:g.(?_23755215)_(23853627_?)del
NC_000013.10:g.(?_23777834)_(23824876_?)del
NC_000013.10:g.(?_23777834)_(23985378_?)dup
NC_000013.10:g.(?_23808730)_(23808871_?)del
NC_000013.10:g.(?_23808791)_(23810016_?)del
NC_000013.10:g.(?_23824749)_(23853637_?)del
NC_000013.10:g.(?_23853478)_(23869646_?)del
NC_000013.10:g.(?_23853478)_(23985378_?)del
NC_000013.10:g.(?_23869534)_(23869646_?)del
NC_000013.10:g.(?_23869544)_(23869636_?)dup
NC_000013.10:g.(?_23894756)_(23985378_?)dup
NC_000013.10:g.(?_23894756)_(24463459_?)del
NC_000013.10:g.(?_23898487)_(23898680_?)del
NC_000013.10:g.(?_23898487)_(24463459_?)del
NC_000013.10:g.(?_23898497)_(23898690_?)del
NC_000013.11:g.(?_23093196)_(23203899_?)del
NC_000013.11:g.(?_23093196)_(23411249_?)del
NC_000013.11:g.(?_23093196)_(23411259_?)del
NC_000013.11:g.(?_23203675)_(23279498_?)del
NC_000013.11:g.(?_23203685)_(23203899_?)del
NC_000013.11:g.(?_23320627)_(23320770_?)del
NM_000231.3(SGCG):c.105T>A (p.Cys35Ter) rs760108586
NM_000231.3(SGCG):c.105T>C (p.Cys35=)
NM_000231.3(SGCG):c.112T>C (p.Leu38=) rs1800349
NM_000231.3(SGCG):c.117T>G (p.Phe39Leu) rs1877867873
NM_000231.3(SGCG):c.121CTT[1] (p.Leu44del) rs1349925286
NM_000231.3(SGCG):c.128T>A (p.Leu43Ter) rs2137501447
NM_000231.3(SGCG):c.129A>G (p.Leu43=) rs1555234797
NM_000231.3(SGCG):c.141C>T (p.Leu47=) rs1877869527
NM_000231.3(SGCG):c.142G>C (p.Val48Leu) rs369936288
NM_000231.3(SGCG):c.152del (p.Asn50_Leu51insTer)
NM_000231.3(SGCG):c.161C>A (p.Thr54Lys) rs886043940
NM_000231.3(SGCG):c.167G>A (p.Trp56Ter) rs1351510337
NM_000231.3(SGCG):c.172C>A (p.Leu58Ile) rs752310028
NM_000231.3(SGCG):c.174_175insTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACAATTTGGATTCTT (p.Lys59delinsPhePhePhePhePhePheXaaXaaXaaXaaValSerGlnAspGlyLeuAspLeuLeuThrSerTer) rs2137501542
NM_000231.3(SGCG):c.177dup (p.Val60fs) rs2137501584
NM_000231.3(SGCG):c.183G>A (p.Met61Ile) rs1288398934
NM_000231.3(SGCG):c.195+11T>G
NM_000231.3(SGCG):c.195+15T>G rs2500525453
NM_000231.3(SGCG):c.195+19T>C rs980023596
NM_000231.3(SGCG):c.195+3A>G rs1173625904
NM_000231.3(SGCG):c.195+4_195+7del rs797045106
NM_000231.3(SGCG):c.196-10T>C rs759238812
NM_000231.3(SGCG):c.196-10_196-6del rs568365779
NM_000231.3(SGCG):c.196-18_196-15del rs781346372
NM_000231.3(SGCG):c.196-19T>C rs1420326823
NM_000231.3(SGCG):c.196-1G>A rs2541899899
NM_000231.3(SGCG):c.196-6del rs568365779
NM_000231.3(SGCG):c.196-6dup rs568365779
NM_000231.3(SGCG):c.196-7_196-6del rs568365779
NM_000231.3(SGCG):c.196-8_196-6del rs568365779
NM_000231.3(SGCG):c.196-9T>C rs1218168404
NM_000231.3(SGCG):c.199G>A (p.Gly67Arg) rs1879239201
NM_000231.3(SGCG):c.205G>C (p.Gly69Arg) rs2541899936
NM_000231.3(SGCG):c.213G>A (p.Leu71=) rs2541899994
NM_000231.3(SGCG):c.216T>A (p.Cys72Ter) rs1474297447
NM_000231.3(SGCG):c.217G>A (p.Val73Ile) rs763619480
NM_000231.3(SGCG):c.223A>G (p.Lys75Glu) rs2137545079
NM_000231.3(SGCG):c.230dup (p.Leu78fs) rs1432706111
NM_000231.3(SGCG):c.237C>G (p.Arg79=) rs201144588
NM_000231.3(SGCG):c.240G>A (p.Leu80=) rs1228186934
NM_000231.3(SGCG):c.241_297+1169del
NM_000231.3(SGCG):c.250T>A (p.Ser84Thr) rs1566011041
NM_000231.3(SGCG):c.259T>C (p.Leu87=) rs1174403532
NM_000231.3(SGCG):c.260T>G (p.Leu87Ter) rs2541900264
NM_000231.3(SGCG):c.264C>T (p.Phe88=) rs2137545196
NM_000231.3(SGCG):c.268T>C (p.Leu90=) rs2541900298
NM_000231.3(SGCG):c.273T>C (p.Tyr91=) rs2541900341
NM_000231.3(SGCG):c.274G>A (p.Ala92Thr) rs1566011069
NM_000231.3(SGCG):c.275C>A (p.Ala92Asp) rs886044395
NM_000231.3(SGCG):c.27C>T (p.Ala9=) rs764748199
NM_000231.3(SGCG):c.288C>T (p.His96=) rs957838468
NM_000231.3(SGCG):c.297+13T>G rs2541900497
NM_000231.3(SGCG):c.297+14_297+15del rs2541900502
NM_000231.3(SGCG):c.297+16G>A rs1374589705
NM_000231.3(SGCG):c.297+17A>G rs2541900513
NM_000231.3(SGCG):c.297+18C>G rs1408311582
NM_000231.3(SGCG):c.298-14A>G rs1879922548
NM_000231.3(SGCG):c.298-16A>G rs2541936214
NM_000231.3(SGCG):c.298-1G>A rs79500874
NM_000231.3(SGCG):c.298-20T>G rs767248231
NM_000231.3(SGCG):c.298-2A>G rs1555240119
NM_000231.3(SGCG):c.298-8C>T rs2541936252
NM_000231.3(SGCG):c.300C>T (p.Asp100=) rs2137569260
NM_000231.3(SGCG):c.303A>G (p.Ser101=)
NM_000231.3(SGCG):c.307C>T (p.Leu103=) rs754191351
NM_000231.3(SGCG):c.310C>A (p.Leu104Ile) rs918581161
NM_000231.3(SGCG):c.312T>C (p.Leu104=) rs1800351
NM_000231.3(SGCG):c.317A>C (p.Gln106Pro) rs2137569326
NM_000231.3(SGCG):c.320C>T (p.Ser107Leu)
NM_000231.3(SGCG):c.321A>C (p.Ser107=) rs777873668
NM_000231.3(SGCG):c.327G>A (p.Gln109=) rs2541936427
NM_000231.3(SGCG):c.336T>C (p.Thr112=) rs2541936475
NM_000231.3(SGCG):c.344C>A (p.Ala115Glu) rs774245371
NM_000231.3(SGCG):c.360G>A (p.Gly120=) rs755373825
NM_000231.3(SGCG):c.361del (p.Glu121fs) rs1879928532
NM_000231.3(SGCG):c.363G>A (p.Glu121=) rs1242431990
NM_000231.3(SGCG):c.374G>A (p.Arg125Lys) rs2137569487
NM_000231.3(SGCG):c.375G>A (p.Arg125=) rs2541936670
NM_000231.3(SGCG):c.381A>G (p.Lys127=) rs2541936691
NM_000231.3(SGCG):c.385+17C>T
NM_000231.3(SGCG):c.385+19T>C
NM_000231.3(SGCG):c.385+1G>A rs2541936716
NM_000231.3(SGCG):c.385+7C>T rs1879930943
NM_000231.3(SGCG):c.386-12T>C rs781429055
NM_000231.3(SGCG):c.386-15G>A rs2541996764
NM_000231.3(SGCG):c.386-15G>C rs2541996764
NM_000231.3(SGCG):c.386-17C>T
NM_000231.3(SGCG):c.386-18A>G rs2541996744
NM_000231.3(SGCG):c.386-2A>C rs886042757
NM_000231.3(SGCG):c.386-2A>G rs886042757
NM_000231.3(SGCG):c.386-8T>A rs2137617464
NM_000231.3(SGCG):c.386-9A>G rs1361293561
NM_000231.3(SGCG):c.386G>T (p.Gly129Val) rs866412938
NM_000231.3(SGCG):c.399A>C (p.Val133=) rs747909634
NM_000231.3(SGCG):c.405C>T (p.Val135=) rs771962643
NM_000231.3(SGCG):c.42C>T (p.Cys14=) rs1877862967
NM_000231.3(SGCG):c.432C>G (p.Ser144=) rs775787536
NM_000231.3(SGCG):c.432C>T (p.Ser144=) rs775787536
NM_000231.3(SGCG):c.434A>G (p.Asn145Ser) rs1451332880
NM_000231.3(SGCG):c.435C>A (p.Asn145Lys) rs35628352
NM_000231.3(SGCG):c.441C>G (p.Gly147=) rs750443730
NM_000231.3(SGCG):c.447A>G (p.Pro149=) rs2137617646
NM_000231.3(SGCG):c.447A>T (p.Pro149=) rs2137617646
NM_000231.3(SGCG):c.44T>C (p.Ile15Thr) rs1877863268
NM_000231.3(SGCG):c.452_458del (p.Leu150_Phe151insTer) rs886042540
NM_000231.3(SGCG):c.455C>A (p.Thr152Asn) rs201329880
NM_000231.3(SGCG):c.459A>G (p.Val153=) rs1420567021
NM_000231.3(SGCG):c.45A>G (p.Ile15Met) rs2137501268
NM_000231.3(SGCG):c.485C>A (p.Thr162Lys) rs770939408
NM_000231.3(SGCG):c.494T>C (p.Leu165Pro) rs2137617769
NM_000231.3(SGCG):c.496C>T (p.Arg166Ter) rs1881219252
NM_000231.3(SGCG):c.501A>G (p.Val167=) rs560640452
NM_000231.3(SGCG):c.504T>C (p.Thr168=) rs2137617795
NM_000231.3(SGCG):c.505+14C>G rs1432691963
NM_000231.3(SGCG):c.505+15G>T rs144143366
NM_000231.3(SGCG):c.505+20A>G rs2137617840
NM_000231.3(SGCG):c.505+22del rs776037693
NM_000231.3(SGCG):c.506-10T>A rs2137644577
NM_000231.3(SGCG):c.506-14dup rs761883156
NM_000231.3(SGCG):c.506-15T>C rs1364745131
NM_000231.3(SGCG):c.506-4T>C rs998871436
NM_000231.3(SGCG):c.506-5T>C rs2542029820
NM_000231.3(SGCG):c.506-6G>T rs1347438845
NM_000231.3(SGCG):c.507G>A (p.Gly169=) rs199905729
NM_000231.3(SGCG):c.507G>T (p.Gly169=) rs199905729
NM_000231.3(SGCG):c.510T>C (p.Pro170=) rs2542029853
NM_000231.3(SGCG):c.511G>T (p.Glu171Ter) rs1881865054
NM_000231.3(SGCG):c.519T>C (p.Ala173=) rs2542029921
NM_000231.3(SGCG):c.524_527del (p.Phe175fs) rs2137644682
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
NM_000231.3(SGCG):c.528_534del (p.His177fs) rs2542029970
NM_000231.3(SGCG):c.529C>T (p.His177Tyr) rs375592456
NM_000231.3(SGCG):c.533C>G (p.Ser178Ter) rs1011397929
NM_000231.3(SGCG):c.533del (p.His177_Ser178insTer) rs1180551378
NM_000231.3(SGCG):c.549dup (p.Val184fs) rs2137644772
NM_000231.3(SGCG):c.551T>G (p.Val184Gly) rs1593095374
NM_000231.3(SGCG):c.552C>A (p.Val184=) rs2542030098
NM_000231.3(SGCG):c.555A>G (p.Arg185=) rs2542030109
NM_000231.3(SGCG):c.558C>A (p.Ala186=) rs766503990
NM_000231.3(SGCG):c.559G>A (p.Asp187Asn) rs886042075
NM_000231.3(SGCG):c.560A>G (p.Asp187Gly) rs2137644813
NM_000231.3(SGCG):c.563C>G (p.Pro188Arg) rs753806016
NM_000231.3(SGCG):c.563C>T (p.Pro188Leu) rs753806016
NM_000231.3(SGCG):c.575T>G (p.Leu192Arg) rs1555245351
NM_000231.3(SGCG):c.578+1G>C rs1555245353
NM_000231.3(SGCG):c.578+1G>T rs1555245353
NM_000231.3(SGCG):c.578+8T>G rs1359141230
NM_000231.3(SGCG):c.578+9T>C rs757092281
NM_000231.3(SGCG):c.578+9_578+20del rs2137644904
NM_000231.3(SGCG):c.579-10C>G rs1232043975
NM_000231.3(SGCG):c.579-10C>T rs1232043975
NM_000231.3(SGCG):c.579-11C>T rs1340836460
NM_000231.3(SGCG):c.579-16C>A rs756081741
NM_000231.3(SGCG):c.579-16_579-14del rs2542092398
NM_000231.3(SGCG):c.579-1G>A rs1883001175
NM_000231.3(SGCG):c.579-20G>T rs763225044
NM_000231.3(SGCG):c.579-2A>G rs754415994
NM_000231.3(SGCG):c.579-3C>T rs2542092498
NM_000231.3(SGCG):c.579-7A>C rs371758035
NM_000231.3(SGCG):c.579-8C>T rs1201295927
NM_000231.3(SGCG):c.579-9T>C rs2137528009
NM_000231.3(SGCG):c.57G>A (p.Glu19=) rs752669226
NM_000231.3(SGCG):c.57G>T (p.Glu19Asp) rs752669226
NM_000231.3(SGCG):c.581T>G (p.Leu194Ter) rs547818652
NM_000231.3(SGCG):c.599del (p.Ser200fs) rs886043860
NM_000231.3(SGCG):c.5T>C (p.Val2Ala) rs2500524665
NM_000231.3(SGCG):c.615C>T (p.Ala205=) rs142409090
NM_000231.3(SGCG):c.618A>C (p.Pro206=) rs2137528124
NM_000231.3(SGCG):c.619A>G (p.Arg207Gly) rs1883003177
NM_000231.3(SGCG):c.627G>A (p.Val209=) rs1205442031
NM_000231.3(SGCG):c.630T>C (p.His210=) rs2542092887
NM_000231.3(SGCG):c.636A>G (p.Gln212=) rs794727841
NM_000231.3(SGCG):c.63G>A (p.Gln21=) rs1459310219
NM_000231.3(SGCG):c.643G>T (p.Ala215Ser) rs770020910
NM_000231.3(SGCG):c.645T>A (p.Ala215=) rs763278303
NM_000231.3(SGCG):c.648_649insC (p.Lys217fs) rs2137528211
NM_000231.3(SGCG):c.649A>T (p.Lys217Ter) rs1325816562
NM_000231.3(SGCG):c.659C>T (p.Ala220Val) rs753751942
NM_000231.3(SGCG):c.662T>C (p.Leu221Pro) rs1883006449
NM_000231.3(SGCG):c.66T>A (p.Tyr22Ter) rs376410504
NM_000231.3(SGCG):c.672G>T (p.Met224Ile) rs866525494
NM_000231.3(SGCG):c.673_674insTATTCTTTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC (p.Asp225delinsValPhePhePhePhePhePhePhePhePheXaaXaaXaaXaaAspGlyValSerProCysTer) rs2137528297
NM_000231.3(SGCG):c.684T>C (p.Phe228=) rs1593112867
NM_000231.3(SGCG):c.687T>C (p.His229=) rs2542093201
NM_000231.3(SGCG):c.699_702del (p.Met234fs) rs2137528349
NM_000231.3(SGCG):c.69C>T (p.Val23=) rs2500524959
NM_000231.3(SGCG):c.702+12C>T rs1883008518
NM_000231.3(SGCG):c.702+1G>C rs1555248000
NM_000231.3(SGCG):c.702+9A>C rs2542093329
NM_000231.3(SGCG):c.703-17C>T rs752265420
NM_000231.3(SGCG):c.703-19C>G rs1051922693
NM_000231.3(SGCG):c.703-1G>A rs1883152345
NM_000231.3(SGCG):c.703-1G>C rs1883152345
NM_000231.3(SGCG):c.705_706inv (p.Val236Met)
NM_000231.3(SGCG):c.714_719del (p.Asp238_Ala239del) rs1555248287
NM_000231.3(SGCG):c.723T>A (p.Thr241=) rs2137534041
NM_000231.3(SGCG):c.723T>G (p.Thr241=) rs2137534041
NM_000231.3(SGCG):c.727_728del (p.Cys243fs) rs758078849
NM_000231.3(SGCG):c.729C>T (p.Cys243=) rs1883154183
NM_000231.3(SGCG):c.730_732delinsAGCAT (p.Leu244fs) rs1883154291
NM_000231.3(SGCG):c.735del (p.Lys246fs) rs797044783
NM_000231.3(SGCG):c.743T>C (p.Val248Ala) rs2542103041
NM_000231.3(SGCG):c.750G>C (p.Gly250=) rs1381101841
NM_000231.3(SGCG):c.752del (p.Thr251fs) rs886042749
NM_000231.3(SGCG):c.757G>A (p.Gly253Ser) rs2137534114
NM_000231.3(SGCG):c.759T>A (p.Gly253=) rs2137534128
NM_000231.3(SGCG):c.768C>A (p.Gly256=) rs2137534138
NM_000231.3(SGCG):c.768C>G (p.Gly256=) rs2137534138
NM_000231.3(SGCG):c.768del (p.Ser257fs) rs1199421806
NM_000231.3(SGCG):c.771C>T (p.Ser257=) rs2542103219
NM_000231.3(SGCG):c.775_776del (p.Gln259fs) rs2137534154
NM_000231.3(SGCG):c.796G>T (p.Val266Leu) rs1555248300
NM_000231.3(SGCG):c.800_801del (p.Cys267fs) rs780348174
NM_000231.3(SGCG):c.800_801delinsCC (p.Cys267Ser) rs2542103409
NM_000231.3(SGCG):c.804A>G (p.Pro268=) rs1566049866
NM_000231.3(SGCG):c.810G>C (p.Gly270=) rs1268630904
NM_000231.3(SGCG):c.815T>G (p.Leu272Arg) rs1883158371
NM_000231.3(SGCG):c.817T>A (p.Tyr273Asn) rs1883158469
NM_000231.3(SGCG):c.819C>T (p.Tyr273=) rs1566049887
NM_000231.3(SGCG):c.820C>T (p.Leu274=) rs2542103601
NM_000231.3(SGCG):c.824_827del (p.Ser275fs) rs1361450354
NM_000231.3(SGCG):c.828G>A (p.Val276=) rs2542103667
NM_000231.3(SGCG):c.82del (p.Ile28fs) rs2528278649
NM_000231.3(SGCG):c.837G>A (p.Val279=) rs2542103729
NM_000231.3(SGCG):c.846G>A (p.Thr282=) rs778036404
NM_000231.3(SGCG):c.84T>C (p.Ile28=) rs1031067187
NM_000231.3(SGCG):c.852G>A (p.Gln284=) rs2542103825
NM_000231.3(SGCG):c.860A>C (p.Asn287Thr) rs1800354
NM_000231.3(SGCG):c.867C>A (p.Ile289=) rs2542103877
NM_000231.3(SGCG):c.87T>A (p.Tyr29Ter) rs1196026821
NM_000231.3(SGCG):c.89del (p.Gly30fs) rs2500525027
NM_000231.3(SGCG):c.99G>A (p.Lys33=) rs778502285

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