ClinVar Miner

List of variants in gene SMC1A

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 419
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HGVS dbSNP
GRCh38/hg38 Xp11.22(chrX:53375808-53387455)x3
GRCh38/hg38 Xp11.22(chrX:53375808-53387455)x4
GRCh38/hg38 Xp11.22(chrX:53397800-53403846)x1
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.(?_53448825)_(53449569_?)del
NC_000023.10:g.(?_53449431)_(53449549_?)del
NM_001281463.1(SMC1A):c.*1028C>T rs1057515967
NM_001281463.1(SMC1A):c.*1239T>C rs782502306
NM_001281463.1(SMC1A):c.*1240A>G rs1057515966
NM_001281463.1(SMC1A):c.*14C>T rs112727682
NM_001281463.1(SMC1A):c.*1559G>A rs782736361
NM_001281463.1(SMC1A):c.*1961C>T rs986586627
NM_001281463.1(SMC1A):c.*2050T>C rs1057515964
NM_001281463.1(SMC1A):c.*2225G>A rs1047323522
NM_001281463.1(SMC1A):c.*2423G>A rs147324052
NM_001281463.1(SMC1A):c.*2435T>G rs782650092
NM_001281463.1(SMC1A):c.*2490T>C rs1057515962
NM_001281463.1(SMC1A):c.*2540C>G rs182535846
NM_001281463.1(SMC1A):c.*2589A>G rs782291666
NM_001281463.1(SMC1A):c.*2609A>C rs192734396
NM_001281463.1(SMC1A):c.*2663C>T rs1057515961
NM_001281463.1(SMC1A):c.*2856A>T rs148128199
NM_001281463.1(SMC1A):c.*2948G>T rs183355603
NM_001281463.1(SMC1A):c.*2973C>T rs56110615
NM_001281463.1(SMC1A):c.*3305A>G rs1057515960
NM_001281463.1(SMC1A):c.*3421G>T rs41304780
NM_001281463.1(SMC1A):c.*348C>T rs782700234
NM_001281463.1(SMC1A):c.*3671C>T rs1057515959
NM_001281463.1(SMC1A):c.*3777C>G rs41315082
NM_001281463.1(SMC1A):c.*3807G>A rs1057515958
NM_001281463.1(SMC1A):c.*381A>G rs184957599
NM_001281463.1(SMC1A):c.*3838G>A rs144702614
NM_001281463.1(SMC1A):c.*3851A>T rs782817464
NM_001281463.1(SMC1A):c.*4087G>A rs1057515957
NM_001281463.1(SMC1A):c.*41G>A rs782548345
NM_001281463.1(SMC1A):c.*4382A>G rs906340789
NM_001281463.1(SMC1A):c.*4443G>A rs782630117
NM_001281463.1(SMC1A):c.*4581T>C rs1057515955
NM_001281463.1(SMC1A):c.*4645T>C rs150365487
NM_001281463.1(SMC1A):c.*4952_*4953del rs782700101
NM_001281463.1(SMC1A):c.*5016T>C rs17002602
NM_001281463.1(SMC1A):c.*5197T>C rs782050365
NM_001281463.1(SMC1A):c.*5352C>T rs1057515953
NM_001281463.1(SMC1A):c.*5355G>A rs782143840
NM_001281463.1(SMC1A):c.*5380G>A rs186354950
NM_001281463.1(SMC1A):c.*5444G>A rs181871602
NM_001281463.1(SMC1A):c.*5481G>A rs147896900
NM_001281463.1(SMC1A):c.*5692G>A rs1057515952
NM_001281463.1(SMC1A):c.*5915T>C rs1057515951
NM_001281463.1(SMC1A):c.*626A>G rs1057515970
NM_001281463.1(SMC1A):c.*665A>G rs1057515969
NM_001281463.1(SMC1A):c.*703G>T rs189126241
NM_001281463.1(SMC1A):c.*817_*820ACAG[1] rs1057515968
NM_001281463.1(SMC1A):c.*96C>T rs139317060
NM_001281463.1(SMC1A):c.-118G>A rs1556892359
NM_001281463.1(SMC1A):c.-150C>T rs781999328
NM_001281463.1(SMC1A):c.-213C>T rs797044618
NM_001281463.1(SMC1A):c.-231C>T rs1264011
NM_001281463.1(SMC1A):c.-275G>T
NM_001281463.1(SMC1A):c.1032G>A (p.Thr344=) rs140585416
NM_001281463.1(SMC1A):c.1048-2A>G rs1569358628
NM_001281463.1(SMC1A):c.1107G>A (p.Gln369=) rs147952638
NM_001281463.1(SMC1A):c.1124A>G (p.Asn375Ser) rs782697006
NM_001281463.1(SMC1A):c.1126C>T (p.Arg376Ter) rs886041902
NM_001281463.1(SMC1A):c.1127G>A (p.Arg376Gln) rs587784403
NM_001281463.1(SMC1A):c.1180G>A (p.Glu394Lys) rs886044873
NM_001281463.1(SMC1A):c.1188+11G>C rs144354524
NM_001281463.1(SMC1A):c.1188+4G>A rs781824288
NM_001281463.1(SMC1A):c.1188+5G>A rs1569358589
NM_001281463.1(SMC1A):c.1201C>A (p.Gln401Lys) rs587784404
NM_001281463.1(SMC1A):c.1213G>A (p.Glu405Lys) rs886044851
NM_001281463.1(SMC1A):c.1257C>T (p.Tyr419=) rs144850468
NM_001281463.1(SMC1A):c.1298T>C (p.Leu433Pro) rs886044858
NM_001281463.1(SMC1A):c.1322_1323insC (p.Glu442fs) rs1057519398
NM_001281463.1(SMC1A):c.1391A>G (p.Asp464Gly) rs587784405
NM_001281463.1(SMC1A):c.1409A>G (p.Gln470Arg) rs1556890139
NM_001281463.1(SMC1A):c.1412A>C (p.Glu471Ala) rs122454122
NM_001281463.1(SMC1A):c.1421G>A (p.Arg474His) rs122454123
NM_001281463.1(SMC1A):c.1429C>T (p.Arg477Ter) rs1556890135
NM_001281463.1(SMC1A):c.1438G>A (p.Glu480Lys) rs1057522040
NM_001281463.1(SMC1A):c.1479+4A>C rs377270943
NM_001281463.1(SMC1A):c.1482C>T (p.Tyr494=) rs782547781
NM_001281463.1(SMC1A):c.1543del (p.Val515fs) rs1556889640
NM_001281463.1(SMC1A):c.161A>G (p.Asn54Ser) rs200243549
NM_001281463.1(SMC1A):c.1632G>A (p.Glu544=) rs7052858
NM_001281463.1(SMC1A):c.1688T>C (p.Leu563Pro) rs587784406
NM_001281463.1(SMC1A):c.1692G>T (p.Arg564=) rs782379340
NM_001281463.1(SMC1A):c.1768G>A (p.Ala590Thr) rs727504164
NM_001281463.1(SMC1A):c.1781C>T (p.Ala594Val) rs782196047
NM_001281463.1(SMC1A):c.1806T>G (p.Asp602Glu) rs1369059288
NM_001281463.1(SMC1A):c.1810C>T (p.Arg604Cys) rs1556889577
NM_001281463.1(SMC1A):c.1811G>A (p.Arg604His) rs587784407
NM_001281463.1(SMC1A):c.1924del (p.Arg642fs) rs1556889534
NM_001281463.1(SMC1A):c.1930T>C (p.Trp644Arg) rs1057518859
NM_001281463.1(SMC1A):c.195_206del (p.Glu65_Glu68del) rs1569359505
NM_001281463.1(SMC1A):c.1969G>T (p.Glu657Ter) rs1569356968
NM_001281463.1(SMC1A):c.1972C>T (p.Arg658Cys) rs1556889524
NM_001281463.1(SMC1A):c.1980_1982del (p.Glu662del) rs797045992
NM_001281463.1(SMC1A):c.2012G>A (p.Arg671Gln) rs587784408
NM_001281463.1(SMC1A):c.2065C>T (p.Arg689Trp) rs587784409
NM_001281463.1(SMC1A):c.2125C>T (p.Leu709=) rs782301753
NM_001281463.1(SMC1A):c.2131-5T>C rs2297104
NM_001281463.1(SMC1A):c.219C>G (p.Ala73=) rs587784414
NM_001281463.1(SMC1A):c.2206C>T (p.Arg736Ter) rs1556889269
NM_001281463.1(SMC1A):c.221G>C (p.Arg74Pro) rs781817340
NM_001281463.1(SMC1A):c.2248-2A>G rs1602409271
NM_001281463.1(SMC1A):c.2261T>A (p.Val754Glu) rs587784410
NM_001281463.1(SMC1A):c.2263T>C (p.Phe755Leu) rs1556889236
NM_001281463.1(SMC1A):c.2284A>G (p.Ile762Val) rs587784411
NM_001281463.1(SMC1A):c.2285T>C (p.Ile762Thr) rs387906702
NM_001281463.1(SMC1A):c.2302C>T (p.Arg768Trp) rs587784412
NM_001281463.1(SMC1A):c.2303G>A (p.Arg768Gln) rs797045993
NM_001281463.1(SMC1A):c.232+12T>C rs782781148
NM_001281463.1(SMC1A):c.2328dup (p.Arg777fs) rs1569356555
NM_001281463.1(SMC1A):c.232G>C (p.Gly78Arg) rs1569359487
NM_001281463.1(SMC1A):c.2354+5G>A rs1556889217
NM_001281463.1(SMC1A):c.2354G>A (p.Arg785His) rs1569356550
NM_001281463.1(SMC1A):c.2380C>T (p.Arg794Cys) rs1556888586
NM_001281463.1(SMC1A):c.2381G>A (p.Arg794His) rs886044819
NM_001281463.1(SMC1A):c.2390T>G (p.Ile797Ser) rs587784413
NM_001281463.1(SMC1A):c.245A>G (p.Glu82Gly) rs1556891059
NM_001281463.1(SMC1A):c.2481del (p.Ile827fs) rs797045069
NM_001281463.1(SMC1A):c.2496+1G>A rs1556888550
NM_001281463.1(SMC1A):c.2580G>A (p.Ser860=) rs1193658492
NM_001281463.1(SMC1A):c.2642A>G (p.Lys881Arg) rs1569355072
NM_001281463.1(SMC1A):c.2643-4T>A rs1602405648
NM_001281463.1(SMC1A):c.2672C>T (p.Thr891Ile) rs1569355048
NM_001281463.1(SMC1A):c.2703dup (p.Ser902fs) rs1556888010
NM_001281463.1(SMC1A):c.2722C>T (p.Leu908=) rs781912370
NM_001281463.1(SMC1A):c.2726A>G (p.Gln909Arg) rs782728089
NM_001281463.1(SMC1A):c.2758C>T (p.Leu920=) rs139654605
NM_001281463.1(SMC1A):c.2807del (p.Gln936fs) rs1556887777
NM_001281463.1(SMC1A):c.2884G>A (p.Gly962Ser) rs782381563
NM_001281463.1(SMC1A):c.2907+45G>A rs73210414
NM_001281463.1(SMC1A):c.2908-2A>G rs727503774
NM_001281463.1(SMC1A):c.2911G>T (p.Ala971Ser) rs782127256
NM_001281463.1(SMC1A):c.2915A>G (p.Gln972Arg) rs781817923
NM_001281463.1(SMC1A):c.2990_3016delinsTGCAG (p.Arg997fs) rs1556886127
NM_001281463.1(SMC1A):c.3004A>T (p.Asn1002Tyr) rs587784415
NM_001281463.1(SMC1A):c.3037C>T (p.Arg1013Ter) rs1556886124
NM_001281463.1(SMC1A):c.3080G>A (p.Arg1027Gln) rs587784416
NM_001281463.1(SMC1A):c.3085C>T (p.Arg1029Ter) rs1569351907
NM_001281463.1(SMC1A):c.3112G>A (p.Glu1038Lys) rs1057521921
NM_001281463.1(SMC1A):c.3120C>G (p.Ile1040Met) rs372307204
NM_001281463.1(SMC1A):c.3130C>T (p.Arg1044Cys) rs797044896
NM_001281463.1(SMC1A):c.3131G>A (p.Arg1044His) rs1556886034
NM_001281463.1(SMC1A):c.3158A>G (p.Glu1053Gly) rs1556886027
NM_001281463.1(SMC1A):c.3169A>G (p.Thr1057Ala) rs1602398590
NM_001281463.1(SMC1A):c.3186C>T (p.Ile1062=) rs587784417
NM_001281463.1(SMC1A):c.3188A>G (p.Tyr1063Cys) rs587784418
NM_001281463.1(SMC1A):c.3224T>A (p.Phe1075Tyr) rs1131692271
NM_001281463.1(SMC1A):c.3240C>G (p.Asn1080Lys) rs797045994
NM_001281463.1(SMC1A):c.3276C>A (p.Asn1092Lys) rs1057518054
NM_001281463.1(SMC1A):c.3307A>G (p.Met1103Val) rs1057519499
NM_001281463.1(SMC1A):c.3324C>T (p.Gly1108=) rs374246357
NM_001281463.1(SMC1A):c.3384C>T (p.Ala1128=) rs142611198
NM_001281463.1(SMC1A):c.3395T>A (p.Val1132Asp) rs1569351534
NM_001281463.1(SMC1A):c.3402T>G (p.Asp1134Glu) rs1556885815
NM_001281463.1(SMC1A):c.3431A>G (p.Asn1144Ser) rs1556885810
NM_001281463.1(SMC1A):c.3441+3G>A rs1556885809
NM_001281463.1(SMC1A):c.345+6C>T rs782515915
NM_001281463.1(SMC1A):c.346-10C>T rs149219651
NM_001281463.1(SMC1A):c.347G>A (p.Gly116Asp) rs1569359134
NM_001281463.1(SMC1A):c.3491T>C (p.Val1164Ala) rs587784419
NM_001281463.1(SMC1A):c.3502A>G (p.Lys1168Glu) rs1057524798
NM_001281463.1(SMC1A):c.3512T>G (p.Phe1171Cys) rs869312954
NM_001281463.1(SMC1A):c.3525C>T (p.Ala1175=) rs146216425
NM_001281463.1(SMC1A):c.3526G>C (p.Glu1176Gln) rs782175064
NM_001281463.1(SMC1A):c.3545A>T (p.Tyr1182Phe) rs781998306
NM_001281463.1(SMC1A):c.3552+10G>A rs782278656
NM_001281463.1(SMC1A):c.3552+7C>T rs782267492
NM_001281463.1(SMC1A):c.355G>A (p.Glu119Lys) rs587784420
NM_001281463.1(SMC1A):c.3572G>A (p.Ser1191Asn) rs1569351352
NM_001281463.1(SMC1A):c.3586_3597del (p.Phe1196_Thr1199del) rs1569351341
NM_001281463.1(SMC1A):c.3597C>T (p.Thr1199=) rs28997583
NM_001281463.1(SMC1A):c.3626A>G (p.Asn1209Ser) rs782012594
NM_001281463.1(SMC1A):c.414T>A (p.Arg138=) rs782369322
NM_001281463.1(SMC1A):c.428C>T (p.Ala143Val) rs1556890833
NM_001281463.1(SMC1A):c.44G>T (p.Gly15Val) rs1569359540
NM_001281463.1(SMC1A):c.481C>T (p.Gln161Ter) rs587784421
NM_001281463.1(SMC1A):c.50C>G (p.Ser17Ter) rs1057518670
NM_001281463.1(SMC1A):c.520C>T (p.Arg174Cys) rs587784422
NM_001281463.1(SMC1A):c.521G>A (p.Arg174His) rs1556890815
NM_001281463.1(SMC1A):c.549+5G>A rs1064795049
NM_001281463.1(SMC1A):c.550-2A>G rs587784423
NM_001281463.1(SMC1A):c.550-6G>A rs587784424
NM_001281463.1(SMC1A):c.556C>G (p.Arg186Gly) rs1057520375
NM_001281463.1(SMC1A):c.55C>T (p.Leu19Phe) rs727503776
NM_001281463.1(SMC1A):c.589del (p.Ala197fs) rs1569359048
NM_001281463.1(SMC1A):c.58A>G (p.Met20Val) rs1556891104
NM_001281463.1(SMC1A):c.62A>T (p.Asp21Val) rs1569359535
NM_001281463.1(SMC1A):c.633G>A (p.Val211=) rs145319852
NM_001281463.1(SMC1A):c.74T>G (p.Phe25Cys) rs1569359530
NM_001281463.1(SMC1A):c.768G>A (p.Gln256=) rs1569358988
NM_001281463.1(SMC1A):c.789-15C>T rs147791932
NM_001281463.1(SMC1A):c.789-2A>G rs1569358774
NM_001281463.1(SMC1A):c.793_795del (p.Lys265del) rs1556890626
NM_001281463.1(SMC1A):c.795G>A (p.Lys265=) rs782543093
NM_001281463.1(SMC1A):c.854A>G (p.His285Arg) rs1556890616
NM_006306.4(SMC1A):c.*1040G>A
NM_006306.4(SMC1A):c.*1542T>C
NM_006306.4(SMC1A):c.*1914A>G
NM_006306.4(SMC1A):c.*1934T>C
NM_006306.4(SMC1A):c.*1967C>T
NM_006306.4(SMC1A):c.*2086T>C
NM_006306.4(SMC1A):c.*2389G>T
NM_006306.4(SMC1A):c.*2936C>T
NM_006306.4(SMC1A):c.*3025C>T
NM_006306.4(SMC1A):c.*3087G>A
NM_006306.4(SMC1A):c.*3392T>C
NM_006306.4(SMC1A):c.*3484G>A
NM_006306.4(SMC1A):c.*3596C>T
NM_006306.4(SMC1A):c.*4156A>G
NM_006306.4(SMC1A):c.*4367T>C
NM_006306.4(SMC1A):c.*4887T>C
NM_006306.4(SMC1A):c.*488A>G
NM_006306.4(SMC1A):c.*4998T>C
NM_006306.4(SMC1A):c.*5051G>T
NM_006306.4(SMC1A):c.*5251G>T
NM_006306.4(SMC1A):c.*5443C>G
NM_006306.4(SMC1A):c.*5451A>G
NM_006306.4(SMC1A):c.*5489G>T
NM_006306.4(SMC1A):c.*5506A>T
NM_006306.4(SMC1A):c.*5722A>T
NM_006306.4(SMC1A):c.*578C>T
NM_006306.4(SMC1A):c.*5853A>G
NM_006306.4(SMC1A):c.*5855G>T
NM_006306.4(SMC1A):c.*5946C>T
NM_006306.4(SMC1A):c.*675A>G
NM_006306.4(SMC1A):c.*931A>G
NM_006306.4(SMC1A):c.-7G>A
NM_006306.4(SMC1A):c.1023G>A (p.Leu341=)
NM_006306.4(SMC1A):c.10del (p.Phe3_Leu4insTer)
NM_006306.4(SMC1A):c.1101G>A (p.Leu367=) rs782695048
NM_006306.4(SMC1A):c.1136AAG[2] (p.Glu381del) rs797045991
NM_006306.4(SMC1A):c.1150A>G (p.Lys384Glu)
NM_006306.4(SMC1A):c.1158A>G (p.Ala386=)
NM_006306.4(SMC1A):c.1203A>C (p.Lys401Asn)
NM_006306.4(SMC1A):c.1235G>A (p.Arg412Gln)
NM_006306.4(SMC1A):c.1254+8A>G
NM_006306.4(SMC1A):c.1269A>G (p.Gln423=)
NM_006306.4(SMC1A):c.1289A>T (p.Glu430Val)
NM_006306.4(SMC1A):c.1290G>A (p.Glu430=)
NM_006306.4(SMC1A):c.1299del (p.Lys433fs) rs1602411858
NM_006306.4(SMC1A):c.1337+9C>T rs376455825
NM_006306.4(SMC1A):c.1338-4G>A
NM_006306.4(SMC1A):c.1342_1348del (p.Ser448fs)
NM_006306.4(SMC1A):c.1347A>C (p.Leu449=)
NM_006306.4(SMC1A):c.1431G>C (p.Leu477=)
NM_006306.4(SMC1A):c.1436A>C (p.Gln479Pro)
NM_006306.4(SMC1A):c.1486C>T (p.Arg496Cys)
NM_006306.4(SMC1A):c.1546-10C>G
NM_006306.4(SMC1A):c.1563C>T (p.Asp521=)
NM_006306.4(SMC1A):c.1564C>T (p.Leu522=)
NM_006306.4(SMC1A):c.1578A>G (p.Thr526=)
NM_006306.4(SMC1A):c.157dup (p.Thr53fs)
NM_006306.4(SMC1A):c.15A>G (p.Lys5=)
NM_006306.4(SMC1A):c.1647G>C (p.Ser549=)
NM_006306.4(SMC1A):c.1681A>C (p.Lys561Gln)
NM_006306.4(SMC1A):c.1682A>G (p.Lys561Arg)
NM_006306.4(SMC1A):c.1726C>T (p.Leu576=)
NM_006306.4(SMC1A):c.1731+3G>T
NM_006306.4(SMC1A):c.1785_1788del (p.Ile595fs) rs1602410239
NM_006306.4(SMC1A):c.1860C>T (p.Asp620=)
NM_006306.4(SMC1A):c.1863C>T (p.Asn621=) rs782665597
NM_006306.4(SMC1A):c.1911+1G>T
NM_006306.4(SMC1A):c.1911+7A>G
NM_006306.4(SMC1A):c.1911G>A (p.Lys637=)
NM_006306.4(SMC1A):c.1912-4G>T
NM_006306.4(SMC1A):c.1917G>A (p.Val639=)
NM_006306.4(SMC1A):c.192G>C (p.Leu64=)
NM_006306.4(SMC1A):c.1933C>T (p.Leu645=)
NM_006306.4(SMC1A):c.1938C>T (p.Phe646=)
NM_006306.4(SMC1A):c.1958C>T (p.Ser653Phe)
NM_006306.4(SMC1A):c.1964G>A (p.Gly655Glu) rs1602410098
NM_006306.4(SMC1A):c.2034G>A (p.Lys678=)
NM_006306.4(SMC1A):c.2039G>A (p.Arg680His) rs1556889522
NM_006306.4(SMC1A):c.2059-9T>C rs782041729
NM_006306.4(SMC1A):c.2061G>A (p.Glu687=)
NM_006306.4(SMC1A):c.2065A>G (p.Met689Val)
NM_006306.4(SMC1A):c.2095C>T (p.Arg699Cys)
NM_006306.4(SMC1A):c.2132G>A (p.Arg711Gln)
NM_006306.4(SMC1A):c.2157A>G (p.Leu719=)
NM_006306.4(SMC1A):c.2161C>T (p.Gln721Ter)
NM_006306.4(SMC1A):c.2184C>A (p.Ala728=) rs968499171
NM_006306.4(SMC1A):c.2197G>T (p.Glu733Ter)
NM_006306.4(SMC1A):c.2205C>A (p.Ser735=)
NM_006306.4(SMC1A):c.2314-7_2314-3del
NM_006306.4(SMC1A):c.2314G>T (p.Val772Leu)
NM_006306.4(SMC1A):c.2320G>A (p.Asp774Asn)
NM_006306.4(SMC1A):c.2320G>T (p.Asp774Tyr)
NM_006306.4(SMC1A):c.2364del (p.Asn788fs)
NM_006306.4(SMC1A):c.2394del (p.Lys798fs)
NM_006306.4(SMC1A):c.2398C>T (p.Gln800Ter)
NM_006306.4(SMC1A):c.2421-4A>G
NM_006306.4(SMC1A):c.2461T>C (p.Leu821=)
NM_006306.4(SMC1A):c.2477del (p.Asn826fs)
NM_006306.4(SMC1A):c.2493_2495del (p.Asp831_Gln832delinsGlu) rs1602407457
NM_006306.4(SMC1A):c.2505A>G (p.Val835=)
NM_006306.4(SMC1A):c.2556C>A (p.Leu852=) rs1602407405
NM_006306.4(SMC1A):c.2583G>A (p.Lys861=) rs1602405816
NM_006306.4(SMC1A):c.2598C>A (p.Thr866=)
NM_006306.4(SMC1A):c.2600T>C (p.Met867Thr)
NM_006306.4(SMC1A):c.2611C>T (p.Gln871Ter)
NM_006306.4(SMC1A):c.2614G>A (p.Asp872Asn)
NM_006306.4(SMC1A):c.2643G>A (p.Lys881=) rs1602405773
NM_006306.4(SMC1A):c.2645C>T (p.Ser882Leu)
NM_006306.4(SMC1A):c.2647G>A (p.Glu883Lys)
NM_006306.4(SMC1A):c.2683C>G (p.Arg895Gly)
NM_006306.4(SMC1A):c.2688G>A (p.Lys896=) rs1602405737
NM_006306.4(SMC1A):c.2691A>G (p.Lys897=) rs782574044
NM_006306.4(SMC1A):c.2694C>T (p.Leu898=)
NM_006306.4(SMC1A):c.2700C>T (p.Gly900=)
NM_006306.4(SMC1A):c.2729AGG[1] (p.Glu911del)
NM_006306.4(SMC1A):c.2789T>C (p.Leu930Pro)
NM_006306.4(SMC1A):c.27T>C (p.Ile9=)
NM_006306.4(SMC1A):c.2814dup (p.Lys939Ter) rs1602405588
NM_006306.4(SMC1A):c.2838C>T (p.Thr946=)
NM_006306.4(SMC1A):c.2842_2845dup (p.Asp949delinsGlyTer)
NM_006306.4(SMC1A):c.2853_2856del (p.Ser951fs) rs863225458
NM_006306.4(SMC1A):c.2862+3G>C
NM_006306.4(SMC1A):c.2862+4A>G
NM_006306.4(SMC1A):c.2863-8C>T rs782738954
NM_006306.4(SMC1A):c.2863-9C>G
NM_006306.4(SMC1A):c.2867G>T (p.Ser956Ile)
NM_006306.4(SMC1A):c.2872dup (p.Gln958fs) rs1602404847
NM_006306.4(SMC1A):c.2886A>C (p.Ser962=) rs782788248
NM_006306.4(SMC1A):c.2908T>A (p.Ser970Thr)
NM_006306.4(SMC1A):c.2923C>T (p.Arg975Ter)
NM_006306.4(SMC1A):c.2948A>G (p.Tyr983Cys)
NM_006306.4(SMC1A):c.2949C>T (p.Tyr983=) rs1390804289
NM_006306.4(SMC1A):c.2973G>A (p.Lys991=)
NM_006306.4(SMC1A):c.2979C>T (p.Ala993=)
NM_006306.4(SMC1A):c.298+9G>A rs1556891082
NM_006306.4(SMC1A):c.3003A>G (p.Gln1001=)
NM_006306.4(SMC1A):c.3022C>T (p.Gln1008Ter) rs1602398950
NM_006306.4(SMC1A):c.304T>G (p.Ser102Ala)
NM_006306.4(SMC1A):c.3053A>G (p.Gln1018Arg)
NM_006306.4(SMC1A):c.3063C>T (p.Ala1021=) rs202083908
NM_006306.4(SMC1A):c.310G>A (p.Glu104Lys)
NM_006306.4(SMC1A):c.3115C>T (p.Gln1039Ter)
NM_006306.4(SMC1A):c.3119dup (p.Thr1041fs)
NM_006306.4(SMC1A):c.3131-13T>G
NM_006306.4(SMC1A):c.3135T>C (p.Phe1045=) rs1602398671
NM_006306.4(SMC1A):c.3145C>T (p.Arg1049Ter)
NM_006306.4(SMC1A):c.3174A>G (p.Ala1058=)
NM_006306.4(SMC1A):c.3177C>T (p.Phe1059=) rs375312256
NM_006306.4(SMC1A):c.3187AAG[1] (p.Lys1064del)
NM_006306.4(SMC1A):c.3205C>T (p.Arg1069Cys)
NM_006306.4(SMC1A):c.3215C>G (p.Ala1072Gly)
NM_006306.4(SMC1A):c.3227C>T (p.Ser1076Phe)
NM_006306.4(SMC1A):c.3249dup (p.Ile1084fs)
NM_006306.4(SMC1A):c.3252C>G (p.Ile1084Met)
NM_006306.4(SMC1A):c.3267C>G (p.Ser1089=)
NM_006306.4(SMC1A):c.3286-4C>T rs1556885985
NM_006306.4(SMC1A):c.3344G>A (p.Cys1115Tyr)
NM_006306.4(SMC1A):c.3344G>T (p.Cys1115Phe)
NM_006306.4(SMC1A):c.3362G>A (p.Arg1121His)
NM_006306.4(SMC1A):c.3371C>T (p.Pro1124Leu) rs1602398439
NM_006306.4(SMC1A):c.3437+10A>T rs782079503
NM_006306.4(SMC1A):c.3438-7C>T rs782796392
NM_006306.4(SMC1A):c.3460G>A (p.Val1154Ile)
NM_006306.4(SMC1A):c.3463C>T (p.Leu1155=)
NM_006306.4(SMC1A):c.3490A>G (p.Asn1164Asp) rs868961188
NM_006306.4(SMC1A):c.3497A>C (p.Asn1166Thr) rs1556885810
NM_006306.4(SMC1A):c.3534G>C (p.Ser1178=)
NM_006306.4(SMC1A):c.3549_3552dup (p.Ile1185fs) rs863225459
NM_006306.4(SMC1A):c.3555C>T (p.Ile1185=)
NM_006306.4(SMC1A):c.3570G>A (p.Lys1190=)
NM_006306.4(SMC1A):c.3591C>G (p.Ala1197=)
NM_006306.4(SMC1A):c.3592G>A (p.Glu1198Lys)
NM_006306.4(SMC1A):c.3615T>A (p.Pro1205=) rs1602397790
NM_006306.4(SMC1A):c.3618+8G>A
NM_006306.4(SMC1A):c.3651C>T (p.Thr1217=)
NM_006306.4(SMC1A):c.3655_3656insCCG (p.Asp1219_Leu1220insAla)
NM_006306.4(SMC1A):c.3660C>T (p.Leu1220=)
NM_006306.4(SMC1A):c.3663C>G (p.Thr1221=)
NM_006306.4(SMC1A):c.3666G>A (p.Lys1222=) rs1602397606
NM_006306.4(SMC1A):c.3683C>T (p.Pro1228Leu) rs782063495
NM_006306.4(SMC1A):c.372G>C (p.Leu124Phe) rs148835205
NM_006306.4(SMC1A):c.37A>C (p.Lys13Gln)
NM_006306.4(SMC1A):c.381C>T (p.Leu127=)
NM_006306.4(SMC1A):c.392G>A (p.Arg131His)
NM_006306.4(SMC1A):c.392del (p.Arg131fs)
NM_006306.4(SMC1A):c.397T>G (p.Phe133Val)
NM_006306.4(SMC1A):c.402C>T (p.Leu134=)
NM_006306.4(SMC1A):c.429T>C (p.Ile143=)
NM_006306.4(SMC1A):c.452G>A (p.Arg151Lys)
NM_006306.4(SMC1A):c.453G>A (p.Arg151=)
NM_006306.4(SMC1A):c.462A>G (p.Leu154=)
NM_006306.4(SMC1A):c.481del (p.Ser161fs)
NM_006306.4(SMC1A):c.495G>A (p.Ala165=)
NM_006306.4(SMC1A):c.512G>A (p.Arg171Gln)
NM_006306.4(SMC1A):c.52_53del (p.Arg18fs) rs1602418853
NM_006306.4(SMC1A):c.552T>C (p.Phe184=) rs1556890821
NM_006306.4(SMC1A):c.579G>A (p.Ala193=) rs199571320
NM_006306.4(SMC1A):c.583G>T (p.Glu195Ter) rs1602413582
NM_006306.4(SMC1A):c.586C>G (p.Arg196Gly)
NM_006306.4(SMC1A):c.594A>G (p.Glu198=) rs1556890814
NM_006306.4(SMC1A):c.615+2T>C rs868985177
NM_006306.4(SMC1A):c.616-7del rs1312306004
NM_006306.4(SMC1A):c.669G>C (p.Leu223=)
NM_006306.4(SMC1A):c.675C>T (p.Leu225=)
NM_006306.4(SMC1A):c.756C>G (p.Asp252Glu)
NM_006306.4(SMC1A):c.756C>T (p.Asp252=) rs370671274
NM_006306.4(SMC1A):c.763C>T (p.Arg255Cys)
NM_006306.4(SMC1A):c.764G>A (p.Arg255His)
NM_006306.4(SMC1A):c.793_795del (p.Glu265del) rs1602413408
NM_006306.4(SMC1A):c.796AAG[2] (p.Lys268del) rs727503773
NM_006306.4(SMC1A):c.816A>G (p.Lys272=)
NM_006306.4(SMC1A):c.846G>A (p.Lys282=) rs1602413372
NM_006306.4(SMC1A):c.854+6_854+7del
NM_006306.4(SMC1A):c.915C>T (p.Thr305=) rs782522248
NM_006306.4(SMC1A):c.951G>A (p.Lys317=)
SMC1A, 15-BP DEL, NT173
SMC1A, 8.152-KB DEL

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