ClinVar Miner

List of variants in gene SMC1A reported as pathogenic for multiple congenital anomalies/dysmorphic syndrome

Included ClinVar conditions (856):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 103
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HGVS dbSNP gnomAD frequency
NM_006306.4(SMC1A):c.2132G>A (p.Arg711Gln) rs782176647 0.00002
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.109+575dup rs2075758478
NM_006306.4(SMC1A):c.10del (p.Phe3_Leu4insTer) rs2146614137
NM_006306.4(SMC1A):c.1114-2A>G rs1569358628
NM_006306.4(SMC1A):c.116C>G (p.Ser39Ter) rs1057518670
NM_006306.4(SMC1A):c.1171C>T (p.Gln391Ter) rs2146604602
NM_006306.4(SMC1A):c.1193G>A (p.Arg398Gln) rs587784403
NM_006306.4(SMC1A):c.121C>T (p.Leu41Phe) rs727503776
NM_006306.4(SMC1A):c.1299del (p.Lys433fs) rs1602411858
NM_006306.4(SMC1A):c.1335C>T (p.Ser445=)
NM_006306.4(SMC1A):c.1388_1389insC (p.Glu464fs) rs1057519398
NM_006306.4(SMC1A):c.1447del (p.Gln483fs)
NM_006306.4(SMC1A):c.1478A>C (p.Glu493Ala) rs122454122
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.1495C>T (p.Arg499Ter) rs1556890135
NM_006306.4(SMC1A):c.157dup (p.Thr53fs) rs2075726992
NM_006306.4(SMC1A):c.1607A>G (p.Lys536Arg) rs2146600076
NM_006306.4(SMC1A):c.1717del (p.Asp574fs)
NM_006306.4(SMC1A):c.173_187del (p.Val58_Arg62del)
NM_006306.4(SMC1A):c.1785_1788del (p.Ile595fs) rs1602410239
NM_006306.4(SMC1A):c.1927G>T (p.Gly643Ter)
NM_006306.4(SMC1A):c.1958C>T (p.Ser653Phe) rs2075687166
NM_006306.4(SMC1A):c.1989_1995del (p.Arg664fs)
NM_006306.4(SMC1A):c.2035G>T (p.Glu679Ter) rs1569356968
NM_006306.4(SMC1A):c.2078G>A (p.Arg693Gln) rs587784408
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.2161C>T (p.Gln721Ter) rs2075685944
NM_006306.4(SMC1A):c.2173C>T (p.Arg725Ter) rs2146599304
NM_006306.4(SMC1A):c.2272C>T (p.Arg758Ter) rs1556889269
NM_006306.4(SMC1A):c.2341T>C (p.Cys781Arg) rs2146598316
NM_006306.4(SMC1A):c.2343T>A (p.Cys781Ter)
NM_006306.4(SMC1A):c.2351T>C (p.Ile784Thr) rs387906702
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.2394dup (p.Arg799fs) rs1569356555
NM_006306.4(SMC1A):c.2398C>T (p.Gln800Ter) rs2146598241
NM_006306.4(SMC1A):c.2437C>T (p.Gln813Ter) rs2146595540
NM_006306.4(SMC1A):c.2493_2495del (p.Asp831_Gln832delinsGlu) rs1602407457
NM_006306.4(SMC1A):c.2514G>A (p.Trp838Ter)
NM_006306.4(SMC1A):c.2547del (p.Ile849fs) rs797045069
NM_006306.4(SMC1A):c.2611C>T (p.Gln871Ter) rs2075652085
NM_006306.4(SMC1A):c.2814dup (p.Lys939Ter) rs1602405588
NM_006306.4(SMC1A):c.2842_2845dup (p.Asp949delinsGlyTer) rs2146593421
NM_006306.4(SMC1A):c.2853_2856del (p.Ser951fs) rs863225458
NM_006306.4(SMC1A):c.286C>T (p.Arg96Cys) rs2146606642
NM_006306.4(SMC1A):c.2872dup (p.Gln958fs) rs1602404847
NM_006306.4(SMC1A):c.2890_2893del (p.Ser964fs)
NM_006306.4(SMC1A):c.2899C>T (p.Gln967Ter) rs2146592415
NM_006306.4(SMC1A):c.2923C>T (p.Arg975Ter) rs2146592407
NM_006306.4(SMC1A):c.2948A>G (p.Tyr983Cys) rs1556887759
NM_006306.4(SMC1A):c.2973+1G>A
NM_006306.4(SMC1A):c.2974-2A>G rs727503774
NM_006306.4(SMC1A):c.298+2T>C
NM_006306.4(SMC1A):c.3022C>T (p.Gln1008Ter) rs1602398950
NM_006306.4(SMC1A):c.302del (p.Gly101fs) rs2146606566
NM_006306.4(SMC1A):c.3098del (p.Ser1033fs)
NM_006306.4(SMC1A):c.3103C>T (p.Arg1035Ter) rs1556886124
NM_006306.4(SMC1A):c.3119dup (p.Thr1041fs) rs2075591559
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.3196C>T (p.Arg1066Cys) rs797044896
NM_006306.4(SMC1A):c.3197G>A (p.Arg1066His) rs1556886034
NM_006306.4(SMC1A):c.3249dup (p.Ile1084fs) rs2075587887
NM_006306.4(SMC1A):c.3254A>G (p.Tyr1085Cys) rs587784418
NM_006306.4(SMC1A):c.3255T>A (p.Tyr1085Ter)
NM_006306.4(SMC1A):c.3283C>T (p.Gln1095Ter)
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.3422T>C (p.Leu1141Pro)
NM_006306.4(SMC1A):c.3497A>C (p.Asn1166Thr) rs1556885810
NM_006306.4(SMC1A):c.3549_3552dup (p.Ile1185fs) rs863225459
NM_006306.4(SMC1A):c.371T>A (p.Leu124Ter)
NM_006306.4(SMC1A):c.374del (p.Gly125fs)
NM_006306.4(SMC1A):c.392del (p.Arg131fs) rs2075725850
NM_006306.4(SMC1A):c.397T>G (p.Phe133Val) rs2075725792
NM_006306.4(SMC1A):c.481del (p.Ser161fs) rs2146605644
NM_006306.4(SMC1A):c.511C>T (p.Arg171Ter)
NM_006306.4(SMC1A):c.52C>T (p.Arg18Ter)
NM_006306.4(SMC1A):c.547C>T (p.Gln183Ter) rs587784421
NM_006306.4(SMC1A):c.547_548del (p.Gln183fs) rs2146605568
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+2T>C rs868985177
NM_006306.4(SMC1A):c.616-2A>G rs587784423
NM_006306.4(SMC1A):c.628C>T (p.Gln210Ter) rs2146605443
NM_006306.4(SMC1A):c.655del (p.Ala219fs) rs1569359048
NM_006306.4(SMC1A):c.664C>T (p.Gln222Ter)
NM_006306.4(SMC1A):c.733_734del (p.Lys245fs) rs2146605369
NM_006306.4(SMC1A):c.761del (p.Lys254fs) rs2146605339
NM_006306.4(SMC1A):c.796AAG[2] (p.Lys268del) rs727503773
NM_006306.4(SMC1A):c.909G>C (p.Glu303Asp)
NM_006306.4(SMC1A):c.955_956del (p.Leu319fs)
SMC1A, 8.152-KB DEL

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