ClinVar Miner

List of variants in gene SMC1A reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 153
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.2600T>C (p.Met867Thr) rs1034852654 0.00003
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.2645C>T (p.Ser882Leu) rs376589639 0.00002
NM_006306.4(SMC1A):c.2792A>G (p.Gln931Arg) rs782728089 0.00002
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.2738C>T (p.Thr913Ile) rs1569355048 0.00001
NM_006306.4(SMC1A):c.2862+4A>C rs1445281439 0.00001
NM_006306.4(SMC1A):c.2867G>T (p.Ser956Ile) rs1556887779 0.00001
NM_006306.4(SMC1A):c.2908T>A (p.Ser970Thr) rs1239033094 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.392G>A (p.Arg131His) rs781903928 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.823C>T (p.Arg275Trp) rs781812690 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.1014G>C (p.Lys338Asn)
NM_006306.4(SMC1A):c.1114-3C>T
NM_006306.4(SMC1A):c.1130G>A (p.Arg377Gln)
NM_006306.4(SMC1A):c.1136AAG[2] (p.Glu381del) rs797045991
NM_006306.4(SMC1A):c.1149C>G (p.Ser383Arg)
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)
NM_006306.4(SMC1A):c.1219C>G (p.Leu407Val)
NM_006306.4(SMC1A):c.124A>G (p.Met42Val) rs1556891104
NM_006306.4(SMC1A):c.1338-4G>C
NM_006306.4(SMC1A):c.1369G>C (p.Gly457Arg)
NM_006306.4(SMC1A):c.1370G>C (p.Gly457Ala)
NM_006306.4(SMC1A):c.1396G>T (p.Ala466Ser)
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.1546-10C>G rs2146600160
NM_006306.4(SMC1A):c.1553G>A (p.Arg518His) rs2146600129
NM_006306.4(SMC1A):c.1628A>G (p.Asp543Gly)
NM_006306.4(SMC1A):c.1665C>G (p.Asp555Glu)
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.1695G>T (p.Gly565=)
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)
NM_006306.4(SMC1A):c.1808C>T (p.Pro603Leu)
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.1872T>G (p.Asp624Glu) rs1369059288
NM_006306.4(SMC1A):c.1876C>T (p.Arg626Cys) rs1556889577
NM_006306.4(SMC1A):c.1877G>A (p.Arg626His) rs587784407
NM_006306.4(SMC1A):c.1879C>T (p.Arg627Cys)
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.1961G>T (p.Gly654Val)
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)
NM_006306.4(SMC1A):c.2171C>T (p.Thr724Ile)
NM_006306.4(SMC1A):c.2291A>G (p.Asp764Gly)
NM_006306.4(SMC1A):c.2299_2301del (p.Glu767del)
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.2360G>A (p.Arg787His)
NM_006306.4(SMC1A):c.2420+5G>A rs1556889217
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)
NM_006306.4(SMC1A):c.2509A>T (p.Met837Leu)
NM_006306.4(SMC1A):c.2560A>C (p.Lys854Gln)
NM_006306.4(SMC1A):c.2563-3C>G
NM_006306.4(SMC1A):c.2563-3C>T
NM_006306.4(SMC1A):c.2585T>C (p.Ile862Thr)
NM_006306.4(SMC1A):c.261_272del (p.Glu87_Glu90del) rs1569359505
NM_006306.4(SMC1A):c.2635G>A (p.Ala879Thr)
NM_006306.4(SMC1A):c.2708+7G>A
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)
NM_006306.4(SMC1A):c.2729AGG[1] (p.Glu911del) rs2075651266
NM_006306.4(SMC1A):c.2753A>C (p.Lys918Thr)
NM_006306.4(SMC1A):c.2777G>A (p.Arg926His)
NM_006306.4(SMC1A):c.2789T>C (p.Leu930Pro) rs2146593453
NM_006306.4(SMC1A):c.2794G>A (p.Ala932Thr)
NM_006306.4(SMC1A):c.2862+4A>G rs1445281439
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)
NM_006306.4(SMC1A):c.2912G>T (p.Ser971Ile)
NM_006306.4(SMC1A):c.2918A>G (p.Tyr973Cys)
NM_006306.4(SMC1A):c.2966A>T (p.Asp989Val)
NM_006306.4(SMC1A):c.2973G>A (p.Lys991=) rs2075644860
NM_006306.4(SMC1A):c.2974-9G>A rs2146583272
NM_006306.4(SMC1A):c.3026A>G (p.Lys1009Arg)
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.3056G>A (p.Arg1019His)
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.3212A>G (p.Asn1071Ser)
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)
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)
NM_006306.4(SMC1A):c.34T>G (p.Phe12Val) rs2146614101
NM_006306.4(SMC1A):c.3507+3G>A rs1556885809
NM_006306.4(SMC1A):c.3530A>G (p.Gln1177Arg)
NM_006306.4(SMC1A):c.3533C>T (p.Ser1178Leu)
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)
NM_006306.4(SMC1A):c.3655G>A (p.Asp1219Asn)
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.37A>C (p.Lys13Gln) rs2075764777
NM_006306.4(SMC1A):c.391C>T (p.Arg131Cys)
NM_006306.4(SMC1A):c.428T>G (p.Ile143Ser) rs2146605688
NM_006306.4(SMC1A):c.479G>A (p.Arg160His)
NM_006306.4(SMC1A):c.4G>C (p.Gly2Arg)
NM_006306.4(SMC1A):c.512G>A (p.Arg171Gln) rs2075720519
NM_006306.4(SMC1A):c.526G>A (p.Val176Met)
NM_006306.4(SMC1A):c.562C>T (p.Arg188Cys) rs2146605558
NM_006306.4(SMC1A):c.578C>T (p.Ala193Val)
NM_006306.4(SMC1A):c.586C>T (p.Arg196Cys) rs587784422
NM_006306.4(SMC1A):c.641A>G (p.Asp214Gly)
NM_006306.4(SMC1A):c.653G>A (p.Arg218Gln)
NM_006306.4(SMC1A):c.738C>A (p.Asn246Lys)
NM_006306.4(SMC1A):c.739A>G (p.Lys247Glu)
NM_006306.4(SMC1A):c.744_755del (p.Glu248_Lys251del) rs2146605357
NM_006306.4(SMC1A):c.764G>C (p.Arg255Pro)
NM_006306.4(SMC1A):c.773A>G (p.Lys258Arg)
NM_006306.4(SMC1A):c.800A>G (p.Lys267Arg)
NM_006306.4(SMC1A):c.812G>A (p.Gly271Asp) rs2146605306
NM_006306.4(SMC1A):c.824G>A (p.Arg275Gln)
NM_006306.4(SMC1A):c.859_861del (p.Lys287del) rs1556890626
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)
NM_006306.4(SMC1A):c.947A>G (p.Lys316Arg)
NM_006306.4(SMC1A):c.970A>G (p.Lys324Glu)
NM_006306.4(SMC1A):c.977A>T (p.Tyr326Phe)
NM_006306.4(SMC1A):c.986G>C (p.Arg329Pro) rs782449052

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.