ClinVar Miner

List of variants in gene SMC1A reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 566
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HGVS dbSNP gnomAD frequency
NM_006306.4(SMC1A):c.412-10C>T rs149219651 0.01511
NM_006306.4(SMC1A):c.2197-5T>C rs2297104 0.00852
NM_006306.4(SMC1A):c.699G>A (p.Val233=) rs145319852 0.00488
NM_006306.4(SMC1A):c.1698G>A (p.Glu566=) rs7052858 0.00452
NM_006306.4(SMC1A):c.298+19A>G rs113817745 0.00432
NM_006306.4(SMC1A):c.855-15C>T rs147791932 0.00326
NM_006306.4(SMC1A):c.1254+11G>C rs144354524 0.00258
NM_006306.4(SMC1A):c.1323C>T (p.Tyr441=) rs144850468 0.00183
NM_006306.4(SMC1A):c.3450C>T (p.Ala1150=) rs142611198 0.00183
NM_006306.4(SMC1A):c.1545+4A>C rs377270943 0.00129
NM_006306.4(SMC1A):c.3591C>T (p.Ala1197=) rs146216425 0.00051
NM_006306.4(SMC1A):c.1912-14C>T rs375109064 0.00046
NM_006306.4(SMC1A):c.2862+14C>T rs180705944 0.00044
NM_006306.4(SMC1A):c.2824C>T (p.Leu942=) rs139654605 0.00039
NM_006306.4(SMC1A):c.3438-7C>T rs782796392 0.00020
NM_006306.4(SMC1A):c.1173G>A (p.Gln391=) rs147952638 0.00019
NM_006306.4(SMC1A):c.2862+20G>A rs374473076 0.00017
NM_006306.4(SMC1A):c.1098G>A (p.Thr366=) rs140585416 0.00015
NM_006306.4(SMC1A):c.1564C>T (p.Leu522=) rs782367851 0.00015
NM_006306.4(SMC1A):c.1337+9C>T rs376455825 0.00014
NM_006306.4(SMC1A):c.861G>A (p.Lys287=) rs782543093 0.00012
NM_006306.4(SMC1A):c.1923G>A (p.Leu641=) rs782123095 0.00008
NM_006306.4(SMC1A):c.579G>A (p.Ala193=) rs199571320 0.00008
NM_006306.4(SMC1A):c.1431G>C (p.Leu477=) rs1392864809 0.00007
NM_006306.4(SMC1A):c.1911+12C>G rs200324148 0.00007
NM_006306.4(SMC1A):c.2562+17T>G rs782781158 0.00007
NM_006306.4(SMC1A):c.2691A>G (p.Lys897=) rs782574044 0.00007
NM_006306.4(SMC1A):c.3438-18C>T rs781873202 0.00007
NM_006306.4(SMC1A):c.764G>A (p.Arg255His) rs782606119 0.00007
NM_006306.4(SMC1A):c.2034G>A (p.Lys678=) rs782008528 0.00006
NM_006306.4(SMC1A):c.2977G>T (p.Ala993Ser) rs782127256 0.00006
NM_006306.4(SMC1A):c.3177C>T (p.Phe1059=) rs375312256 0.00006
NM_006306.4(SMC1A):c.372G>C (p.Leu124Phe) rs148835205 0.00006
NM_006306.4(SMC1A):c.2646G>A (p.Ser882=) rs1193658492 0.00005
NM_006306.4(SMC1A):c.3063C>T (p.Ala1021=) rs202083908 0.00005
NM_006306.4(SMC1A):c.756C>T (p.Asp252=) rs370671274 0.00005
NM_006306.4(SMC1A):c.825G>A (p.Arg275=) rs150488530 0.00005
NM_006306.4(SMC1A):c.109+13T>G rs782668468 0.00004
NM_006306.4(SMC1A):c.1347A>C (p.Leu449=) rs142531536 0.00004
NM_006306.4(SMC1A):c.298+12T>C rs782781148 0.00004
NM_006306.4(SMC1A):c.3186C>G (p.Ile1062Met) rs372307204 0.00004
NM_006306.4(SMC1A):c.3390C>T (p.Gly1130=) rs374246357 0.00004
NM_006306.4(SMC1A):c.3438-3C>T rs782161734 0.00004
NM_006306.4(SMC1A):c.458C>T (p.Ala153Val) rs1171109209 0.00004
NM_006306.4(SMC1A):c.854+17G>A rs781860125 0.00004
NM_006306.4(SMC1A):c.1101G>A (p.Leu367=) rs782695048 0.00003
NM_006306.4(SMC1A):c.1548C>T (p.Tyr516=) rs782547781 0.00003
NM_006306.4(SMC1A):c.1566A>G (p.Leu522=) rs782191187 0.00003
NM_006306.4(SMC1A):c.1933C>T (p.Leu645=) rs987473076 0.00003
NM_006306.4(SMC1A):c.1938C>T (p.Phe646=) rs370873072 0.00003
NM_006306.4(SMC1A):c.2058+9C>G rs1356800269 0.00003
NM_006306.4(SMC1A):c.2059-9T>C rs782041729 0.00003
NM_006306.4(SMC1A):c.227A>G (p.Asn76Ser) rs200243549 0.00003
NM_006306.4(SMC1A):c.2421-20C>T rs1282673050 0.00003
NM_006306.4(SMC1A):c.2600T>C (p.Met867Thr) rs1034852654 0.00003
NM_006306.4(SMC1A):c.2973+16_2973+17del rs782659050 0.00003
NM_006306.4(SMC1A):c.3618+8G>A rs782319907 0.00003
NM_006306.4(SMC1A):c.412-14T>G rs782106342 0.00003
NM_006306.4(SMC1A):c.429T>C (p.Ile143=) rs782366028 0.00003
NM_006306.4(SMC1A):c.594A>G (p.Glu198=) rs1556890814 0.00003
NM_006306.4(SMC1A):c.1254+4G>A rs781824288 0.00002
NM_006306.4(SMC1A):c.1290G>A (p.Glu430=) rs369057648 0.00002
NM_006306.4(SMC1A):c.1545+5G>A rs113714434 0.00002
NM_006306.4(SMC1A):c.1546-5C>T rs1556889651 0.00002
NM_006306.4(SMC1A):c.1578A>G (p.Thr526=) rs1210222346 0.00002
NM_006306.4(SMC1A):c.15A>G (p.Lys5=) rs782396631 0.00002
NM_006306.4(SMC1A):c.174A>G (p.Val58=) rs200428075 0.00002
NM_006306.4(SMC1A):c.1863C>T (p.Asn621=) rs782665597 0.00002
NM_006306.4(SMC1A):c.2124G>A (p.Leu708=) rs1309209851 0.00002
NM_006306.4(SMC1A):c.2132G>A (p.Arg711Gln) rs782176647 0.00002
NM_006306.4(SMC1A):c.2205C>A (p.Ser735=) rs1388876894 0.00002
NM_006306.4(SMC1A):c.2461T>C (p.Leu821=) rs1198625423 0.00002
NM_006306.4(SMC1A):c.2598C>A (p.Thr866=) rs781991944 0.00002
NM_006306.4(SMC1A):c.2645C>T (p.Ser882Leu) rs376589639 0.00002
NM_006306.4(SMC1A):c.2718C>G (p.Thr906=) rs1556888013 0.00002
NM_006306.4(SMC1A):c.2792A>G (p.Gln931Arg) rs782728089 0.00002
NM_006306.4(SMC1A):c.27T>C (p.Ile9=) rs1396001151 0.00002
NM_006306.4(SMC1A):c.2838C>T (p.Thr946=) rs782146571 0.00002
NM_006306.4(SMC1A):c.2886A>C (p.Ser962=) rs782788248 0.00002
NM_006306.4(SMC1A):c.2949C>T (p.Tyr983=) rs1390804289 0.00002
NM_006306.4(SMC1A):c.299-15T>G rs782364230 0.00002
NM_006306.4(SMC1A):c.3003A>G (p.Gln1001=) rs782049998 0.00002
NM_006306.4(SMC1A):c.3215C>G (p.Ala1072Gly) rs782241632 0.00002
NM_006306.4(SMC1A):c.3267C>G (p.Ser1089=) rs368345004 0.00002
NM_006306.4(SMC1A):c.3618+7C>T rs782267492 0.00002
NM_006306.4(SMC1A):c.3619-16C>T rs1556885717 0.00002
NM_006306.4(SMC1A):c.3692A>G (p.Asn1231Ser) rs782012594 0.00002
NM_006306.4(SMC1A):c.453G>A (p.Arg151=) rs782287101 0.00002
NM_006306.4(SMC1A):c.652C>T (p.Arg218Trp) rs782811561 0.00002
NM_006306.4(SMC1A):c.915C>T (p.Thr305=) rs782522248 0.00002
NM_006306.4(SMC1A):c.102T>C (p.Asn34=) rs782100278 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.1410T>C (p.Ile470=) rs782223677 0.00001
NM_006306.4(SMC1A):c.1563C>T (p.Asp521=) rs781957759 0.00001
NM_006306.4(SMC1A):c.1726C>T (p.Leu576=) rs781835493 0.00001
NM_006306.4(SMC1A):c.1758G>T (p.Arg586=) rs782379340 0.00001
NM_006306.4(SMC1A):c.1860C>T (p.Asp620=) rs1458553359 0.00001
NM_006306.4(SMC1A):c.1911+7A>G rs2075687773 0.00001
NM_006306.4(SMC1A):c.1917G>A (p.Val639=) rs782292864 0.00001
NM_006306.4(SMC1A):c.2039G>A (p.Arg680His) rs1556889522 0.00001
NM_006306.4(SMC1A):c.2046A>G (p.Thr682=) rs1388761806 0.00001
NM_006306.4(SMC1A):c.2313+14G>T rs1556889255 0.00001
NM_006306.4(SMC1A):c.2421-15C>A rs1002384123 0.00001
NM_006306.4(SMC1A):c.2421-4A>G rs782673405 0.00001
NM_006306.4(SMC1A):c.2505A>G (p.Val835=) rs782491758 0.00001
NM_006306.4(SMC1A):c.2508C>A (p.His836Gln) rs904926146 0.00001
NM_006306.4(SMC1A):c.2694C>T (p.Leu898=) rs886362301 0.00001
NM_006306.4(SMC1A):c.2709-10C>A rs2083250975 0.00001
NM_006306.4(SMC1A):c.2738C>T (p.Thr913Ile) rs1569355048 0.00001
NM_006306.4(SMC1A):c.2788C>T (p.Leu930=) rs781912370 0.00001
NM_006306.4(SMC1A):c.285C>G (p.Ala95=) rs587784414 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.2950G>A (p.Gly984Ser) rs782381563 0.00001
NM_006306.4(SMC1A):c.2956C>T (p.Leu986=) rs1556887757 0.00001
NM_006306.4(SMC1A):c.3252C>T (p.Ile1084=) rs587784417 0.00001
NM_006306.4(SMC1A):c.3285+4G>A rs1459975526 0.00001
NM_006306.4(SMC1A):c.3286-4C>T rs1556885985 0.00001
NM_006306.4(SMC1A):c.3286-7C>T rs782657390 0.00001
NM_006306.4(SMC1A):c.3437+10A>T rs782079503 0.00001
NM_006306.4(SMC1A):c.3460G>A (p.Val1154Ile) rs782084021 0.00001
NM_006306.4(SMC1A):c.3463C>T (p.Leu1155=) rs781977704 0.00001
NM_006306.4(SMC1A):c.3570G>A (p.Lys1190=) rs138015913 0.00001
NM_006306.4(SMC1A):c.3611A>T (p.Tyr1204Phe) rs781998306 0.00001
NM_006306.4(SMC1A):c.3619-14C>T rs782732704 0.00001
NM_006306.4(SMC1A):c.3627C>T (p.Asp1209=) rs1313105752 0.00001
NM_006306.4(SMC1A):c.3683C>T (p.Pro1228Leu) rs782063495 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.402C>T (p.Leu134=) rs1211706449 0.00001
NM_006306.4(SMC1A):c.411+6C>T rs782515915 0.00001
NM_006306.4(SMC1A):c.42G>C (p.Ser14=) rs1463770411 0.00001
NM_006306.4(SMC1A):c.480T>A (p.Arg160=) rs782369322 0.00001
NM_006306.4(SMC1A):c.494C>T (p.Ala165Val) rs1556890833 0.00001
NM_006306.4(SMC1A):c.495G>A (p.Ala165=) rs782260918 0.00001
NM_006306.4(SMC1A):c.552T>C (p.Phe184=) rs1556890821 0.00001
NM_006306.4(SMC1A):c.63C>T (p.Ile21=) rs781999328 0.00001
NM_006306.4(SMC1A):c.675C>T (p.Leu225=) rs782182228 0.00001
NM_006306.4(SMC1A):c.716A>G (p.Asn239Ser) rs782172948 0.00001
NM_006306.4(SMC1A):c.753G>A (p.Lys251=) rs782297601 0.00001
NM_006306.4(SMC1A):c.763C>T (p.Arg255Cys) rs782209409 0.00001
NM_006306.4(SMC1A):c.816A>G (p.Lys272=) rs782455775 0.00001
NM_006306.4(SMC1A):c.823C>T (p.Arg275Trp) rs781812690 0.00001
NM_006306.4(SMC1A):c.855-13C>T rs1556890636 0.00001
NM_006306.4(SMC1A):c.986G>A (p.Arg329His) rs782449052 0.00001
NC_000023.10:g.(?_53407004)_(53449569_?)dup
NC_000023.10:g.(?_53421678)_(53449569_?)dup
NC_000023.10:g.(?_53421698)_(53421808_?)del
NC_000023.10:g.(?_53430478)_(53432101_?)del
NC_000023.10:g.(?_53430478)_(53442138_?)del
NC_000023.10:g.(?_53435973)_(53442138_?)del
NC_000023.10:g.(?_53448825)_(53449569_?)del
NC_000023.10:g.(?_53449431)_(53449549_?)del
NM_006306.4(SMC1A):c.1005G>T (p.Glu335Asp)
NM_006306.4(SMC1A):c.1014G>C (p.Lys338Asn)
NM_006306.4(SMC1A):c.1023G>A (p.Leu341=) rs782132247
NM_006306.4(SMC1A):c.1050T>C (p.Phe350=) rs2146604747
NM_006306.4(SMC1A):c.1056A>G (p.Glu352=)
NM_006306.4(SMC1A):c.1057C>T (p.Arg353Trp)
NM_006306.4(SMC1A):c.1059G>A (p.Arg353=)
NM_006306.4(SMC1A):c.1080T>C (p.Ser360=)
NM_006306.4(SMC1A):c.109+19C>A rs933977903
NM_006306.4(SMC1A):c.109+19C>T
NM_006306.4(SMC1A):c.1099T>C (p.Leu367=)
NM_006306.4(SMC1A):c.10del (p.Phe3_Leu4insTer) rs2146614137
NM_006306.4(SMC1A):c.110-12C>T
NM_006306.4(SMC1A):c.110-16G>A rs929835697
NM_006306.4(SMC1A):c.110-17C>T
NM_006306.4(SMC1A):c.110-19C>T
NM_006306.4(SMC1A):c.1113+16G>C
NM_006306.4(SMC1A):c.1113+17del
NM_006306.4(SMC1A):c.1114-15C>T rs1489497654
NM_006306.4(SMC1A):c.1114-21_1114-19del
NM_006306.4(SMC1A):c.1114-3C>T
NM_006306.4(SMC1A):c.1125C>T (p.Tyr375=)
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.1152G>A (p.Lys384=)
NM_006306.4(SMC1A):c.1158A>G (p.Ala386=) rs2075714290
NM_006306.4(SMC1A):c.1190A>G (p.Asn397Ser) rs782697006
NM_006306.4(SMC1A):c.1191T>C (p.Asn397=)
NM_006306.4(SMC1A):c.1193G>A (p.Arg398Gln) rs587784403
NM_006306.4(SMC1A):c.1203A>C (p.Lys401Asn) rs2075714119
NM_006306.4(SMC1A):c.1212G>A (p.Gln404=) rs2146604588
NM_006306.4(SMC1A):c.1213G>A (p.Asp405Asn)
NM_006306.4(SMC1A):c.1219C>G (p.Leu407Val)
NM_006306.4(SMC1A):c.1239G>A (p.Lys413=)
NM_006306.4(SMC1A):c.124A>G (p.Met42Val) rs1556891104
NM_006306.4(SMC1A):c.1254+17A>G rs2146604554
NM_006306.4(SMC1A):c.1254+8A>G rs2075713975
NM_006306.4(SMC1A):c.1255-19T>G
NM_006306.4(SMC1A):c.1299del (p.Lys433fs) rs1602411858
NM_006306.4(SMC1A):c.12G>C (p.Leu4=) rs2146614125
NM_006306.4(SMC1A):c.1335C>T (p.Ser445=)
NM_006306.4(SMC1A):c.1337+15A>C
NM_006306.4(SMC1A):c.1337+17C>T rs2075702882
NM_006306.4(SMC1A):c.1338-12C>G
NM_006306.4(SMC1A):c.1338-12del
NM_006306.4(SMC1A):c.1338-4G>A rs2146602390
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.1402C>A (p.Arg468=)
NM_006306.4(SMC1A):c.1404G>A (p.Arg468=)
NM_006306.4(SMC1A):c.1408A>G (p.Ile470Val)
NM_006306.4(SMC1A):c.1412A>G (p.Asp471Gly) rs2146602338
NM_006306.4(SMC1A):c.1419C>T (p.Ile473=)
NM_006306.4(SMC1A):c.1425G>A (p.Lys475=) rs2075702025
NM_006306.4(SMC1A):c.1428G>A (p.Glu476=) rs2146602309
NM_006306.4(SMC1A):c.1436A>C (p.Gln479Pro) rs2075701962
NM_006306.4(SMC1A):c.1447del (p.Gln483fs)
NM_006306.4(SMC1A):c.1457A>G (p.Asp486Gly) rs587784405
NM_006306.4(SMC1A):c.1467C>T (p.Ile489=)
NM_006306.4(SMC1A):c.1486C>T (p.Arg496Cys) rs2075701790
NM_006306.4(SMC1A):c.1487G>A (p.Arg496His) rs122454123
NM_006306.4(SMC1A):c.1488C>A (p.Arg496=)
NM_006306.4(SMC1A):c.1495C>T (p.Arg499Ter) rs1556890135
NM_006306.4(SMC1A):c.1497A>C (p.Arg499=) rs2146602244
NM_006306.4(SMC1A):c.1536T>C (p.Pro512=) rs200645744
NM_006306.4(SMC1A):c.1545+18A>G
NM_006306.4(SMC1A):c.1546-10C>G rs2146600160
NM_006306.4(SMC1A):c.1546-11A>G
NM_006306.4(SMC1A):c.1546-13C>G
NM_006306.4(SMC1A):c.1546-17C>T
NM_006306.4(SMC1A):c.1546-2A>C
NM_006306.4(SMC1A):c.1553G>A (p.Arg518His) rs2146600129
NM_006306.4(SMC1A):c.1607A>G (p.Lys536Arg) rs2146600076
NM_006306.4(SMC1A):c.1628A>G (p.Asp543Gly)
NM_006306.4(SMC1A):c.1647G>C (p.Ser549=) rs782582676
NM_006306.4(SMC1A):c.1653G>A (p.Lys551=)
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.1694G>A (p.Gly565Glu) rs2146600012
NM_006306.4(SMC1A):c.1695G>T (p.Gly565=)
NM_006306.4(SMC1A):c.1696G>A (p.Glu566Lys) rs2146600005
NM_006306.4(SMC1A):c.1714C>T (p.Pro572Ser)
NM_006306.4(SMC1A):c.1717del (p.Asp574fs)
NM_006306.4(SMC1A):c.1731+3G>T rs2075688980
NM_006306.4(SMC1A):c.1782G>A (p.Val594=)
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.184C>A (p.Arg62=)
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.1899C>T (p.His633=)
NM_006306.4(SMC1A):c.1904G>A (p.Arg635His) rs2146599709
NM_006306.4(SMC1A):c.1911+11C>T
NM_006306.4(SMC1A):c.1911+18C>T
NM_006306.4(SMC1A):c.1911G>A (p.Lys637=) rs2075687850
NM_006306.4(SMC1A):c.1912-10C>G
NM_006306.4(SMC1A):c.1912-4G>T rs2075687357
NM_006306.4(SMC1A):c.1920A>T (p.Ala640=)
NM_006306.4(SMC1A):c.1927G>T (p.Gly643Ter)
NM_006306.4(SMC1A):c.192G>C (p.Leu64=) rs2146606701
NM_006306.4(SMC1A):c.1935A>C (p.Leu645=)
NM_006306.4(SMC1A):c.1935A>G (p.Leu645=)
NM_006306.4(SMC1A):c.1961G>T (p.Gly654Val)
NM_006306.4(SMC1A):c.1962T>G (p.Gly654=)
NM_006306.4(SMC1A):c.1977G>A (p.Leu659=) rs2146599598
NM_006306.4(SMC1A):c.1989_1995del (p.Arg664fs)
NM_006306.4(SMC1A):c.2040C>T (p.Arg680=) rs782816467
NM_006306.4(SMC1A):c.2065A>G (p.Met689Val) rs2075686262
NM_006306.4(SMC1A):c.2078G>A (p.Arg693Gln) rs587784408
NM_006306.4(SMC1A):c.2088A>G (p.Ala696=)
NM_006306.4(SMC1A):c.2095C>T (p.Arg699Cys) rs2075686139
NM_006306.4(SMC1A):c.2131C>T (p.Arg711Trp) rs587784409
NM_006306.4(SMC1A):c.2132_2139del (p.Arg711fs) rs2146599324
NM_006306.4(SMC1A):c.2146C>T (p.Gln716Ter)
NM_006306.4(SMC1A):c.2156T>C (p.Leu719Pro)
NM_006306.4(SMC1A):c.2157A>G (p.Leu719=) rs1255531738
NM_006306.4(SMC1A):c.2160A>G (p.Glu720=) rs2146599315
NM_006306.4(SMC1A):c.2161C>T (p.Gln721Ter) rs2075685944
NM_006306.4(SMC1A):c.2171C>T (p.Thr724Ile)
NM_006306.4(SMC1A):c.2173C>T (p.Arg725Ter) rs2146599304
NM_006306.4(SMC1A):c.2184C>A (p.Ala728=) rs968499171
NM_006306.4(SMC1A):c.2226C>T (p.Ala742=)
NM_006306.4(SMC1A):c.2229C>T (p.Asn743=)
NM_006306.4(SMC1A):c.2272C>T (p.Arg758Ter) rs1556889269
NM_006306.4(SMC1A):c.2278A>C (p.Arg760=)
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.2314-12T>C
NM_006306.4(SMC1A):c.2314-15G>A rs2146598343
NM_006306.4(SMC1A):c.2314-2A>G rs1602409271
NM_006306.4(SMC1A):c.2314-2A>T rs1602409271
NM_006306.4(SMC1A):c.2314-5C>T
NM_006306.4(SMC1A):c.2314-7_2314-3del rs2146598341
NM_006306.4(SMC1A):c.2314G>T (p.Val772Leu) rs2075680361
NM_006306.4(SMC1A):c.2320G>T (p.Asp774Tyr) rs2075680329
NM_006306.4(SMC1A):c.2328G>A (p.Val776=) rs2146598325
NM_006306.4(SMC1A):c.2343T>A (p.Cys781Ter)
NM_006306.4(SMC1A):c.2346G>C (p.Arg782=)
NM_006306.4(SMC1A):c.2360G>A (p.Arg787His)
NM_006306.4(SMC1A):c.2368C>T (p.Arg790Trp) rs587784412
NM_006306.4(SMC1A):c.2369G>A (p.Arg790Gln) rs797045993
NM_006306.4(SMC1A):c.2382A>G (p.Glu794=) rs2146598260
NM_006306.4(SMC1A):c.2398C>T (p.Gln800Ter) rs2146598241
NM_006306.4(SMC1A):c.2420+5G>A rs1556889217
NM_006306.4(SMC1A):c.2421-14A>C
NM_006306.4(SMC1A):c.2421-15del
NM_006306.4(SMC1A):c.2421-15dup rs781926382
NM_006306.4(SMC1A):c.2421-16C>G
NM_006306.4(SMC1A):c.2421-16C>T
NM_006306.4(SMC1A):c.2437C>T (p.Gln813Ter) rs2146595540
NM_006306.4(SMC1A):c.243C>T (p.Ser81=)
NM_006306.4(SMC1A):c.2446C>T (p.Arg816Cys) rs1556888586
NM_006306.4(SMC1A):c.2454C>T (p.Gly818=)
NM_006306.4(SMC1A):c.2456T>G (p.Ile819Ser) rs587784413
NM_006306.4(SMC1A):c.2487G>A (p.Lys829=)
NM_006306.4(SMC1A):c.2498A>G (p.Asp833Gly)
NM_006306.4(SMC1A):c.2509A>T (p.Met837Leu)
NM_006306.4(SMC1A):c.2514G>A (p.Trp838Ter)
NM_006306.4(SMC1A):c.2523A>G (p.Thr841=)
NM_006306.4(SMC1A):c.2556C>A (p.Leu852=) rs1602407405
NM_006306.4(SMC1A):c.2560A>C (p.Lys854Gln)
NM_006306.4(SMC1A):c.2562+13A>G
NM_006306.4(SMC1A):c.2563-13C>T
NM_006306.4(SMC1A):c.2563-3C>G
NM_006306.4(SMC1A):c.2563-3C>T
NM_006306.4(SMC1A):c.2563-7G>A
NM_006306.4(SMC1A):c.2568A>G (p.Glu856=) rs2146593670
NM_006306.4(SMC1A):c.2583G>A (p.Lys861=) rs1602405816
NM_006306.4(SMC1A):c.2585T>C (p.Ile862Thr)
NM_006306.4(SMC1A):c.2592T>C (p.Asp864=)
NM_006306.4(SMC1A):c.2614G>A (p.Asp872Asn) rs2146593635
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.2640G>A (p.Lys880=) rs2075651961
NM_006306.4(SMC1A):c.2688G>A (p.Lys896=) rs1602405737
NM_006306.4(SMC1A):c.2700C>G (p.Gly900=)
NM_006306.4(SMC1A):c.2700C>T (p.Gly900=) rs186510389
NM_006306.4(SMC1A):c.2708+12C>G
NM_006306.4(SMC1A):c.2708+13A>G
NM_006306.4(SMC1A):c.2708+16C>T
NM_006306.4(SMC1A):c.2708+7G>A
NM_006306.4(SMC1A):c.2708A>G (p.Lys903Arg) rs1569355072
NM_006306.4(SMC1A):c.2709-16C>G
NM_006306.4(SMC1A):c.2709-4T>A rs1602405648
NM_006306.4(SMC1A):c.270G>C (p.Glu90Asp)
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.2739A>G (p.Thr913=) rs2146593498
NM_006306.4(SMC1A):c.2742C>T (p.Ala914=)
NM_006306.4(SMC1A):c.2753A>C (p.Lys918Thr)
NM_006306.4(SMC1A):c.2777G>A (p.Arg926His)
NM_006306.4(SMC1A):c.2785T>C (p.Leu929=)
NM_006306.4(SMC1A):c.2789T>C (p.Leu930Pro) rs2146593453
NM_006306.4(SMC1A):c.2794G>A (p.Ala932Thr)
NM_006306.4(SMC1A):c.2842_2845dup (p.Asp949delinsGlyTer) rs2146593421
NM_006306.4(SMC1A):c.2862+15T>C
NM_006306.4(SMC1A):c.2862+3G>C rs2075650901
NM_006306.4(SMC1A):c.2862+4A>G rs1445281439
NM_006306.4(SMC1A):c.2863-13G>A
NM_006306.4(SMC1A):c.2863-14C>T
NM_006306.4(SMC1A):c.2863-17C>G
NM_006306.4(SMC1A):c.2863-19C>T
NM_006306.4(SMC1A):c.2863-6T>C
NM_006306.4(SMC1A):c.2863-9C>G rs371102918
NM_006306.4(SMC1A):c.286C>T (p.Arg96Cys) rs2146606642
NM_006306.4(SMC1A):c.2872dup (p.Gln958fs) rs1602404847
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.2890_2893del (p.Ser964fs)
NM_006306.4(SMC1A):c.2895T>C (p.Gly965=) rs2075645097
NM_006306.4(SMC1A):c.2899C>T (p.Gln967Ter) rs2146592415
NM_006306.4(SMC1A):c.2912G>T (p.Ser971Ile)
NM_006306.4(SMC1A):c.2918A>G (p.Tyr973Cys)
NM_006306.4(SMC1A):c.2919T>C (p.Tyr973=)
NM_006306.4(SMC1A):c.2922A>G (p.Ala974=)
NM_006306.4(SMC1A):c.2923C>T (p.Arg975Ter) rs2146592407
NM_006306.4(SMC1A):c.2928G>A (p.Glu976=)
NM_006306.4(SMC1A):c.2943T>C (p.Ile981=)
NM_006306.4(SMC1A):c.2948A>G (p.Tyr983Cys) rs1556887759
NM_006306.4(SMC1A):c.2966A>T (p.Asp989Val)
NM_006306.4(SMC1A):c.2973+11A>G
NM_006306.4(SMC1A):c.2973+12C>T
NM_006306.4(SMC1A):c.2973+16A>G
NM_006306.4(SMC1A):c.2973+16A>T
NM_006306.4(SMC1A):c.2973+18G>A rs782310979
NM_006306.4(SMC1A):c.2973+18G>C
NM_006306.4(SMC1A):c.2973+20G>A
NM_006306.4(SMC1A):c.2973G>A (p.Lys991=) rs2075644860
NM_006306.4(SMC1A):c.2974-20G>C
NM_006306.4(SMC1A):c.2974-9G>A rs2146583272
NM_006306.4(SMC1A):c.2979C>T (p.Ala993=) rs2146583246
NM_006306.4(SMC1A):c.298+9G>A rs1556891082
NM_006306.4(SMC1A):c.299-12A>G
NM_006306.4(SMC1A):c.299-14G>A rs2146606574
NM_006306.4(SMC1A):c.299-19C>T
NM_006306.4(SMC1A):c.3024G>A (p.Gln1008=) rs2146583203
NM_006306.4(SMC1A):c.3026A>G (p.Lys1009Arg)
NM_006306.4(SMC1A):c.302del (p.Gly101fs) rs2146606566
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.3056_3082delinsTGCAG (p.Arg1019fs) rs1556886127
NM_006306.4(SMC1A):c.3098del (p.Ser1033fs)
NM_006306.4(SMC1A):c.3103C>T (p.Arg1035Ter) rs1556886124
NM_006306.4(SMC1A):c.3126A>G (p.Ser1042=)
NM_006306.4(SMC1A):c.3130+11C>G
NM_006306.4(SMC1A):c.3131-15C>T
NM_006306.4(SMC1A):c.3131-19C>T
NM_006306.4(SMC1A):c.3131-4del
NM_006306.4(SMC1A):c.3131-5G>C
NM_006306.4(SMC1A):c.3131-7C>T
NM_006306.4(SMC1A):c.3145C>T (p.Arg1049Ter) rs2146582701
NM_006306.4(SMC1A):c.3146G>A (p.Arg1049Gln) rs587784416
NM_006306.4(SMC1A):c.3151C>T (p.Arg1051Ter) rs1569351907
NM_006306.4(SMC1A):c.3174A>G (p.Ala1058=) rs1432130956
NM_006306.4(SMC1A):c.3178G>A (p.Glu1060Lys) rs1057521921
NM_006306.4(SMC1A):c.3196C>T (p.Arg1066Cys) rs797044896
NM_006306.4(SMC1A):c.3197G>A (p.Arg1066His) rs1556886034
NM_006306.4(SMC1A):c.3198C>T (p.Arg1066=)
NM_006306.4(SMC1A):c.3205C>G (p.Arg1069Gly) rs2075588188
NM_006306.4(SMC1A):c.3212A>G (p.Asn1071Ser)
NM_006306.4(SMC1A):c.3219T>C (p.Cys1073=)
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.3246T>C (p.Asp1082=)
NM_006306.4(SMC1A):c.3249G>A (p.Glu1083=)
NM_006306.4(SMC1A):c.3249dup (p.Ile1084fs) rs2075587887
NM_006306.4(SMC1A):c.3252C>G (p.Ile1084Met) rs587784417
NM_006306.4(SMC1A):c.3254A>G (p.Tyr1085Cys) rs587784418
NM_006306.4(SMC1A):c.3255T>A (p.Tyr1085Ter)
NM_006306.4(SMC1A):c.3280G>A (p.Ala1094Thr)
NM_006306.4(SMC1A):c.3283C>T (p.Gln1095Ter)
NM_006306.4(SMC1A):c.3286-4del rs782700135
NM_006306.4(SMC1A):c.3305A>G (p.Asn1102Ser) rs2146582465
NM_006306.4(SMC1A):c.3306C>T (p.Asn1102=) rs797045994
NM_006306.4(SMC1A):c.3344G>A (p.Cys1115Tyr) rs2146582443
NM_006306.4(SMC1A):c.3344G>T (p.Cys1115Phe) rs2146582443
NM_006306.4(SMC1A):c.3362G>A (p.Arg1121His) rs2075586377
NM_006306.4(SMC1A):c.3367C>T (p.Arg1123Trp) rs2146582432
NM_006306.4(SMC1A):c.336C>G (p.Val112=)
NM_006306.4(SMC1A):c.3422T>C (p.Leu1141Pro)
NM_006306.4(SMC1A):c.3436A>C (p.Ser1146Arg)
NM_006306.4(SMC1A):c.3437+12C>A rs2146582406
NM_006306.4(SMC1A):c.3437+1G>A rs2146582412
NM_006306.4(SMC1A):c.3438-12G>T rs2146581650
NM_006306.4(SMC1A):c.3438-8C>T
NM_006306.4(SMC1A):c.3450C>A (p.Ala1150=) rs142611198
NM_006306.4(SMC1A):c.3461T>A (p.Val1154Asp) rs1569351534
NM_006306.4(SMC1A):c.3497A>G (p.Asn1166Ser) rs1556885810
NM_006306.4(SMC1A):c.34T>G (p.Phe12Val) rs2146614101
NM_006306.4(SMC1A):c.3507+3G>A rs1556885809
NM_006306.4(SMC1A):c.3508-13G>T
NM_006306.4(SMC1A):c.3508-15C>T
NM_006306.4(SMC1A):c.3508-18T>C
NM_006306.4(SMC1A):c.3508-20C>T
NM_006306.4(SMC1A):c.3508-2A>G rs2146581345
NM_006306.4(SMC1A):c.3508-6C>T
NM_006306.4(SMC1A):c.351C>T (p.Tyr117=)
NM_006306.4(SMC1A):c.3530A>G (p.Gln1177Arg)
NM_006306.4(SMC1A):c.3533C>T (p.Ser1178Leu)
NM_006306.4(SMC1A):c.3534G>C (p.Ser1178=) rs782763816
NM_006306.4(SMC1A):c.3549G>A (p.Gln1183=) rs2146581326
NM_006306.4(SMC1A):c.3555C>T (p.Ile1185=) rs2146581314
NM_006306.4(SMC1A):c.3559A>G (p.Ile1187Val) rs2146581303
NM_006306.4(SMC1A):c.357G>A (p.Glu119=)
NM_006306.4(SMC1A):c.3591C>G (p.Ala1197=) rs146216425
NM_006306.4(SMC1A):c.3592G>A (p.Glu1198Lys) rs782175064
NM_006306.4(SMC1A):c.3592G>C (p.Glu1198Gln) rs782175064
NM_006306.4(SMC1A):c.3615T>A (p.Pro1205=) rs1602397790
NM_006306.4(SMC1A):c.3621A>G (p.Gln1207=) rs2146581022
NM_006306.4(SMC1A):c.3625G>A (p.Asp1209Asn)
NM_006306.4(SMC1A):c.3651C>T (p.Thr1217=) rs2146581010
NM_006306.4(SMC1A):c.3652_3663del (p.Phe1218_Thr1221del) rs1569351341
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.3660C>T (p.Leu1220=) rs1348100944
NM_006306.4(SMC1A):c.3661A>G (p.Thr1221Ala) rs2146580992
NM_006306.4(SMC1A):c.3663C>G (p.Thr1221=) rs28997583
NM_006306.4(SMC1A):c.3663C>T (p.Thr1221=) rs28997583
NM_006306.4(SMC1A):c.3666G>A (p.Lys1222=) rs1602397606
NM_006306.4(SMC1A):c.3687C>T (p.Asn1229=)
NM_006306.4(SMC1A):c.371T>A (p.Leu124Ter)
NM_006306.4(SMC1A):c.374del (p.Gly125fs)
NM_006306.4(SMC1A):c.378T>A (p.Ile126=)
NM_006306.4(SMC1A):c.37A>C (p.Lys13Gln) rs2075764777
NM_006306.4(SMC1A):c.391C>T (p.Arg131Cys)
NM_006306.4(SMC1A):c.392del (p.Arg131fs) rs2075725850
NM_006306.4(SMC1A):c.397T>G (p.Phe133Val) rs2075725792
NM_006306.4(SMC1A):c.399C>T (p.Phe133=) rs1463042305
NM_006306.4(SMC1A):c.412-12G>T
NM_006306.4(SMC1A):c.412-7T>C
NM_006306.4(SMC1A):c.412-9C>T
NM_006306.4(SMC1A):c.428T>G (p.Ile143Ser) rs2146605688
NM_006306.4(SMC1A):c.441C>T (p.Asn147=)
NM_006306.4(SMC1A):c.444C>G (p.Pro148=)
NM_006306.4(SMC1A):c.452G>A (p.Arg151Lys) rs2075720794
NM_006306.4(SMC1A):c.462A>G (p.Leu154=) rs2146605662
NM_006306.4(SMC1A):c.474T>C (p.Ile158=)
NM_006306.4(SMC1A):c.479G>A (p.Arg160His)
NM_006306.4(SMC1A):c.481del (p.Ser161fs) rs2146605644
NM_006306.4(SMC1A):c.483T>C (p.Ser161=) rs782286610
NM_006306.4(SMC1A):c.489G>A (p.Glu163=)
NM_006306.4(SMC1A):c.497A>G (p.Gln166Arg) rs2146605622
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.528G>A (p.Val176=) rs1359837999
NM_006306.4(SMC1A):c.52C>T (p.Arg18Ter)
NM_006306.4(SMC1A):c.547_548del (p.Gln183fs) rs2146605568
NM_006306.4(SMC1A):c.562C>T (p.Arg188Cys) rs2146605558
NM_006306.4(SMC1A):c.578C>T (p.Ala193Val)
NM_006306.4(SMC1A):c.582T>C (p.Ala194=)
NM_006306.4(SMC1A):c.586C>G (p.Arg196Gly) rs587784422
NM_006306.4(SMC1A):c.586C>T (p.Arg196Cys) rs587784422
NM_006306.4(SMC1A):c.587G>A (p.Arg196His) rs1556890815
NM_006306.4(SMC1A):c.615+14C>T
NM_006306.4(SMC1A):c.615+8G>A
NM_006306.4(SMC1A):c.616-19C>T
NM_006306.4(SMC1A):c.616-4A>G
NM_006306.4(SMC1A):c.616-6G>A rs587784424
NM_006306.4(SMC1A):c.616-7del rs1312306004
NM_006306.4(SMC1A):c.628C>T (p.Gln210Ter) rs2146605443
NM_006306.4(SMC1A):c.641A>G (p.Asp214Gly)
NM_006306.4(SMC1A):c.653G>A (p.Arg218Gln)
NM_006306.4(SMC1A):c.666G>A (p.Gln222=) rs2146605417
NM_006306.4(SMC1A):c.669G>C (p.Leu223=) rs1556890780
NM_006306.4(SMC1A):c.678T>C (p.Phe226=) rs2146605400
NM_006306.4(SMC1A):c.732A>G (p.Ser244=) rs1193851590
NM_006306.4(SMC1A):c.733_734del (p.Lys245fs) rs2146605369
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.761del (p.Lys254fs) rs2146605339
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.813C>A (p.Gly271=)
NM_006306.4(SMC1A):c.813C>T (p.Gly271=)
NM_006306.4(SMC1A):c.81C>T (p.Phe27=) rs2075764568
NM_006306.4(SMC1A):c.824G>A (p.Arg275Gln)
NM_006306.4(SMC1A):c.846G>A (p.Lys282=) rs1602413372
NM_006306.4(SMC1A):c.854+6_854+7del rs1569358983
NM_006306.4(SMC1A):c.855-12C>T
NM_006306.4(SMC1A):c.855-14C>T
NM_006306.4(SMC1A):c.855-17C>T
NM_006306.4(SMC1A):c.855-1G>A
NM_006306.4(SMC1A):c.859_861del (p.Lys287del) rs1556890626
NM_006306.4(SMC1A):c.867A>G (p.Ser289=) rs2146604827
NM_006306.4(SMC1A):c.909G>C (p.Glu303Asp)
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.951G>A (p.Lys317=) rs2146604793
NM_006306.4(SMC1A):c.955_956del (p.Leu319fs)
NM_006306.4(SMC1A):c.970A>G (p.Lys324Glu)
NM_006306.4(SMC1A):c.972G>A (p.Lys324=)
NM_006306.4(SMC1A):c.977A>T (p.Tyr326Phe)
NM_006306.4(SMC1A):c.986G>C (p.Arg329Pro) rs782449052

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