ClinVar Miner

List of variants in gene SMC1A reported as uncertain significance by Labcorp Genetics (formerly Invitae), Labcorp

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Gene type:
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Total variants: 172
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HGVS dbSNP gnomAD frequency
NM_006306.4(SMC1A):c.2563-3C>T rs372708074 0.00004
NM_006306.4(SMC1A):c.3186C>G (p.Ile1062Met) rs372307204 0.00004
NM_006306.4(SMC1A):c.458C>T (p.Ala153Val) rs1171109209 0.00004
NM_006306.4(SMC1A):c.641A>G (p.Asp214Gly) rs1001684337 0.00004
NM_006306.4(SMC1A):c.2600T>C (p.Met867Thr) rs1034852654 0.00003
NM_006306.4(SMC1A):c.2918A>G (p.Tyr973Cys) rs781980688 0.00003
NM_006306.4(SMC1A):c.3212A>G (p.Asn1071Ser) rs782010974 0.00003
NM_006306.4(SMC1A):c.3655G>A (p.Asp1219Asn) rs1259383708 0.00003
NM_006306.4(SMC1A):c.1014G>C (p.Lys338Asn) rs893697991 0.00002
NM_006306.4(SMC1A):c.1254+4G>A rs781824288 0.00002
NM_006306.4(SMC1A):c.1545+5G>A rs113714434 0.00002
NM_006306.4(SMC1A):c.2635G>A (p.Ala879Thr) rs369412105 0.00002
NM_006306.4(SMC1A):c.2792A>G (p.Gln931Arg) rs782728089 0.00002
NM_006306.4(SMC1A):c.1130G>A (p.Arg377Gln) rs782541938 0.00001
NM_006306.4(SMC1A):c.1254+5G>A rs1569358589 0.00001
NM_006306.4(SMC1A):c.1403G>A (p.Arg468Gln) rs1556890153 0.00001
NM_006306.4(SMC1A):c.1808C>T (p.Pro603Leu) rs1368119738 0.00001
NM_006306.4(SMC1A):c.1872T>G (p.Asp624Glu) rs1369059288 0.00001
NM_006306.4(SMC1A):c.1879C>T (p.Arg627Cys) rs1429718803 0.00001
NM_006306.4(SMC1A):c.2645C>T (p.Ser882Leu) rs376589639 0.00001
NM_006306.4(SMC1A):c.2708+7G>A rs1474313110 0.00001
NM_006306.4(SMC1A):c.2738C>T (p.Thr913Ile) rs1569355048 0.00001
NM_006306.4(SMC1A):c.2862+4A>C rs1445281439 0.00001
NM_006306.4(SMC1A):c.2908T>A (p.Ser970Thr) rs1239033094 0.00001
NM_006306.4(SMC1A):c.3056G>A (p.Arg1019His) rs1475862879 0.00001
NM_006306.4(SMC1A):c.3460G>A (p.Val1154Ile) rs782084021 0.00001
NM_006306.4(SMC1A):c.3611A>T (p.Tyr1204Phe) rs781998306 0.00001
NM_006306.4(SMC1A):c.386A>G (p.Lys129Arg) rs1223252947 0.00001
NM_006306.4(SMC1A):c.479G>A (p.Arg160His) rs2075720699 0.00001
NM_006306.4(SMC1A):c.494C>T (p.Ala165Val) rs1556890833 0.00001
NM_006306.4(SMC1A):c.716A>G (p.Asn239Ser) rs782172948 0.00001
NM_006306.4(SMC1A):c.763C>T (p.Arg255Cys) rs782209409 0.00001
NM_006306.4(SMC1A):c.773A>G (p.Lys258Arg) rs897112776 0.00001
NM_006306.4(SMC1A):c.823C>T (p.Arg275Trp) rs781812690 0.00001
NM_006306.4(SMC1A):c.947A>G (p.Lys316Arg) rs1377540307 0.00001
NC_000023.10:g.(?_53407004)_(53449569_?)dup
NC_000023.10:g.(?_53421678)_(53449569_?)dup
NC_000023.10:g.(?_53421698)_(53421808_?)del
NM_006306.4(SMC1A):c.1114-3C>T rs1556890570
NM_006306.4(SMC1A):c.1136AAG[2] (p.Glu381del) rs797045991
NM_006306.4(SMC1A):c.1149C>G (p.Ser383Arg) rs2520956183
NM_006306.4(SMC1A):c.1169C>T (p.Ala390Val)
NM_006306.4(SMC1A):c.1190A>G (p.Asn397Ser) rs782697006
NM_006306.4(SMC1A):c.1203A>C (p.Lys401Asn) rs2075714119
NM_006306.4(SMC1A):c.1213G>A (p.Asp405Asn) rs2520955896
NM_006306.4(SMC1A):c.1219C>G (p.Leu407Val) rs2520955837
NM_006306.4(SMC1A):c.124A>G (p.Met42Val) rs1556891104
NM_006306.4(SMC1A):c.125T>C (p.Met42Thr)
NM_006306.4(SMC1A):c.1338-4G>C rs2146602390
NM_006306.4(SMC1A):c.1369G>C (p.Gly457Arg) rs2520943336
NM_006306.4(SMC1A):c.1370G>C (p.Gly457Ala) rs2075702239
NM_006306.4(SMC1A):c.1396G>T (p.Ala466Ser) rs2520943156
NM_006306.4(SMC1A):c.1412A>G (p.Asp471Gly) rs2146602338
NM_006306.4(SMC1A):c.1436A>C (p.Gln479Pro) rs2075701962
NM_006306.4(SMC1A):c.1457A>G (p.Asp486Gly) rs587784405
NM_006306.4(SMC1A):c.1465A>G (p.Ile489Val)
NM_006306.4(SMC1A):c.1546-10C>G rs2146600160
NM_006306.4(SMC1A):c.1553G>A (p.Arg518His) rs2146600129
NM_006306.4(SMC1A):c.1628A>G (p.Asp543Gly) rs2520930497
NM_006306.4(SMC1A):c.1665C>G (p.Asp555Glu) rs2520930403
NM_006306.4(SMC1A):c.1681A>C (p.Lys561Gln) rs2075689185
NM_006306.4(SMC1A):c.1682A>G (p.Lys561Arg) rs2075689167
NM_006306.4(SMC1A):c.1694G>A (p.Gly565Glu) rs2146600012
NM_006306.4(SMC1A):c.1695G>T (p.Gly565=) rs2520930201
NM_006306.4(SMC1A):c.1696G>A (p.Glu566Lys) rs2146600005
NM_006306.4(SMC1A):c.1731+3G>T rs2075688980
NM_006306.4(SMC1A):c.1799A>T (p.Tyr600Phe) rs2520929186
NM_006306.4(SMC1A):c.1844A>G (p.Asn615Ser) rs2146599772
NM_006306.4(SMC1A):c.1847C>T (p.Ala616Val) rs782196047
NM_006306.4(SMC1A):c.1876C>T (p.Arg626Cys) rs1556889577
NM_006306.4(SMC1A):c.1904G>A (p.Arg635His) rs2146599709
NM_006306.4(SMC1A):c.1911G>A (p.Lys637=) rs2075687850
NM_006306.4(SMC1A):c.1994G>A (p.Arg665His) rs2520927651
NM_006306.4(SMC1A):c.2065A>G (p.Met689Val) rs2075686262
NM_006306.4(SMC1A):c.2095C>T (p.Arg699Cys) rs2075686139
NM_006306.4(SMC1A):c.2156T>C (p.Leu719Pro) rs2520926178
NM_006306.4(SMC1A):c.2171C>T (p.Thr724Ile) rs2520926054
NM_006306.4(SMC1A):c.2182G>T (p.Ala728Ser)
NM_006306.4(SMC1A):c.2291A>G (p.Asp764Gly) rs2520920832
NM_006306.4(SMC1A):c.2299_2301del (p.Glu767del) rs2520920739
NM_006306.4(SMC1A):c.2313+3T>G rs782384493
NM_006306.4(SMC1A):c.2314-15G>A rs2146598343
NM_006306.4(SMC1A):c.2314G>T (p.Val772Leu) rs2075680361
NM_006306.4(SMC1A):c.2353G>T (p.Gly785Cys) rs1226562040
NM_006306.4(SMC1A):c.2360G>A (p.Arg787His) rs782402477
NM_006306.4(SMC1A):c.2414A>G (p.Lys805Arg)
NM_006306.4(SMC1A):c.241A>G (p.Ser81Gly)
NM_006306.4(SMC1A):c.2420+5G>A rs1556889217
NM_006306.4(SMC1A):c.2421-3_2421-2del rs2075664421
NM_006306.4(SMC1A):c.2434A>G (p.Asn812Asp)
NM_006306.4(SMC1A):c.2446C>T (p.Arg816Cys) rs1556888586
NM_006306.4(SMC1A):c.2456T>G (p.Ile819Ser) rs587784413
NM_006306.4(SMC1A):c.2498A>G (p.Asp833Gly) rs2520904717
NM_006306.4(SMC1A):c.2509A>T (p.Met837Leu) rs1556888569
NM_006306.4(SMC1A):c.2524G>A (p.Val842Met)
NM_006306.4(SMC1A):c.2560A>C (p.Lys854Gln) rs2520904318
NM_006306.4(SMC1A):c.2563-3C>G rs372708074
NM_006306.4(SMC1A):c.2585T>C (p.Ile862Thr) rs782302182
NM_006306.4(SMC1A):c.261_272del (p.Glu87_Glu90del) rs1569359505
NM_006306.4(SMC1A):c.2708A>G (p.Lys903Arg) rs1569355072
NM_006306.4(SMC1A):c.2717C>T (p.Thr906Ile) rs2146593520
NM_006306.4(SMC1A):c.2727G>T (p.Gln909His) rs2520891639
NM_006306.4(SMC1A):c.2729AGG[1] (p.Glu911del) rs2075651266
NM_006306.4(SMC1A):c.2753A>C (p.Lys918Thr) rs2520891453
NM_006306.4(SMC1A):c.2777G>A (p.Arg926His) rs2520891351
NM_006306.4(SMC1A):c.2789T>C (p.Leu930Pro) rs2146593453
NM_006306.4(SMC1A):c.2794G>A (p.Ala932Thr) rs369625058
NM_006306.4(SMC1A):c.2862+4A>G rs1445281439
NM_006306.4(SMC1A):c.2867G>T (p.Ser956Ile) rs1556887779
NM_006306.4(SMC1A):c.2882A>T (p.Asp961Val) rs2146592435
NM_006306.4(SMC1A):c.2887G>C (p.Val963Leu) rs2146592426
NM_006306.4(SMC1A):c.2890A>G (p.Ser964Gly) rs2520885081
NM_006306.4(SMC1A):c.2912G>T (p.Ser971Ile) rs2520884876
NM_006306.4(SMC1A):c.2966A>T (p.Asp989Val) rs2520884521
NM_006306.4(SMC1A):c.2973+5G>A
NM_006306.4(SMC1A):c.2973G>A (p.Lys991=) rs2075644860
NM_006306.4(SMC1A):c.2974-9G>A rs2146583272
NM_006306.4(SMC1A):c.2977G>A (p.Ala993Thr)
NM_006306.4(SMC1A):c.3026A>G (p.Lys1009Arg) rs2520828709
NM_006306.4(SMC1A):c.304T>G (p.Ser102Ala) rs2146606564
NM_006306.4(SMC1A):c.3053A>G (p.Gln1018Arg) rs2075591743
NM_006306.4(SMC1A):c.3131-17_3131-16inv
NM_006306.4(SMC1A):c.3178G>A (p.Glu1060Lys) rs1057521921
NM_006306.4(SMC1A):c.3205C>G (p.Arg1069Gly) rs2075588188
NM_006306.4(SMC1A):c.3227C>T (p.Ser1076Phe) rs2146582586
NM_006306.4(SMC1A):c.3235A>G (p.Thr1079Ala) rs1602398590
NM_006306.4(SMC1A):c.3252C>G (p.Ile1084Met) rs587784417
NM_006306.4(SMC1A):c.3280G>A (p.Ala1094Thr) rs2520823721
NM_006306.4(SMC1A):c.3305A>G (p.Asn1102Ser) rs2146582465
NM_006306.4(SMC1A):c.3362G>A (p.Arg1121His) rs2075586377
NM_006306.4(SMC1A):c.3436A>C (p.Ser1146Arg) rs2520821973
NM_006306.4(SMC1A):c.34T>G (p.Phe12Val) rs2146614101
NM_006306.4(SMC1A):c.3507+3G>A rs1556885809
NM_006306.4(SMC1A):c.3529C>G (p.Gln1177Glu)
NM_006306.4(SMC1A):c.3530A>G (p.Gln1177Arg) rs1556885770
NM_006306.4(SMC1A):c.3533C>T (p.Ser1178Leu) rs2520813308
NM_006306.4(SMC1A):c.3559A>G (p.Ile1187Val) rs2146581303
NM_006306.4(SMC1A):c.3592G>C (p.Glu1198Gln) rs782175064
NM_006306.4(SMC1A):c.3621A>G (p.Gln1207=) rs2146581022
NM_006306.4(SMC1A):c.3625G>A (p.Asp1209Asn) rs2520810087
NM_006306.4(SMC1A):c.3638G>A (p.Ser1213Asn) rs1569351352
NM_006306.4(SMC1A):c.3655_3656insCCG (p.Phe1218_Asp1219insAla) rs2075576498
NM_006306.4(SMC1A):c.3661A>G (p.Thr1221Ala) rs2146580992
NM_006306.4(SMC1A):c.3671C>A (p.Pro1224Gln) rs2520809740
NM_006306.4(SMC1A):c.37A>C (p.Lys13Gln) rs2075764777
NM_006306.4(SMC1A):c.391C>T (p.Arg131Cys) rs2520969249
NM_006306.4(SMC1A):c.392G>A (p.Arg131His) rs781903928
NM_006306.4(SMC1A):c.428T>G (p.Ile143Ser) rs2146605688
NM_006306.4(SMC1A):c.4G>C (p.Gly2Arg) rs2075764895
NM_006306.4(SMC1A):c.512G>A (p.Arg171Gln) rs2075720519
NM_006306.4(SMC1A):c.526G>A (p.Val176Met) rs2520963158
NM_006306.4(SMC1A):c.562C>T (p.Arg188Cys) rs2146605558
NM_006306.4(SMC1A):c.578C>T (p.Ala193Val) rs2520962974
NM_006306.4(SMC1A):c.586C>T (p.Arg196Cys) rs587784422
NM_006306.4(SMC1A):c.653G>A (p.Arg218Gln) rs2075719827
NM_006306.4(SMC1A):c.738C>A (p.Asn246Lys) rs2520961607
NM_006306.4(SMC1A):c.739A>G (p.Lys247Glu) rs2075719463
NM_006306.4(SMC1A):c.744_755del (p.Glu248_Lys251del) rs2146605357
NM_006306.4(SMC1A):c.764G>C (p.Arg255Pro) rs782606119
NM_006306.4(SMC1A):c.800A>G (p.Lys267Arg) rs2520961160
NM_006306.4(SMC1A):c.812G>A (p.Gly271Asp) rs2146605306
NM_006306.4(SMC1A):c.824G>A (p.Arg275Gln) rs2520960966
NM_006306.4(SMC1A):c.82A>G (p.Thr28Ala)
NM_006306.4(SMC1A):c.855-13C>G
NM_006306.4(SMC1A):c.859_861del (p.Lys287del) rs1556890626
NM_006306.4(SMC1A):c.887C>G (p.Pro296Arg)
NM_006306.4(SMC1A):c.917C>A (p.Ser306Tyr) rs2146604807
NM_006306.4(SMC1A):c.920A>G (p.His307Arg) rs1556890616
NM_006306.4(SMC1A):c.937G>A (p.Glu313Lys) rs2520957938
NM_006306.4(SMC1A):c.970A>G (p.Lys324Glu) rs2520957778
NM_006306.4(SMC1A):c.977A>T (p.Tyr326Phe) rs2520957741
NM_006306.4(SMC1A):c.986G>C (p.Arg329Pro) rs782449052

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