ClinVar Miner

List of variants in gene SMC1A reported as uncertain significance for Cornelia de Lange syndrome 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 125
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HGVS dbSNP
NC_000023.10:g.(?_53407004)_(53449569_?)dup
NM_001281463.1(SMC1A):c.*1028C>T rs1057515967
NM_001281463.1(SMC1A):c.*1240A>G rs1057515966
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.*2435T>G rs782650092
NM_001281463.1(SMC1A):c.*2490T>C rs1057515962
NM_001281463.1(SMC1A):c.*2609A>C rs192734396
NM_001281463.1(SMC1A):c.*2663C>T rs1057515961
NM_001281463.1(SMC1A):c.*2948G>T rs183355603
NM_001281463.1(SMC1A):c.*3305A>G rs1057515960
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.*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.*5197T>C rs782050365
NM_001281463.1(SMC1A):c.*5352C>T rs1057515953
NM_001281463.1(SMC1A):c.*5355G>A rs782143840
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.-213C>T rs797044618
NM_001281463.1(SMC1A):c.-275G>T
NM_001281463.1(SMC1A):c.1124A>G (p.Asn375Ser) rs782697006
NM_001281463.1(SMC1A):c.1188+11G>C rs144354524
NM_001281463.1(SMC1A):c.1188+5G>A rs1569358589
NM_001281463.1(SMC1A):c.1391A>G (p.Asp464Gly) rs587784405
NM_001281463.1(SMC1A):c.1479+4A>C rs377270943
NM_001281463.1(SMC1A):c.161A>G (p.Asn54Ser) rs200243549
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.195_206del (p.Glu65_Glu68del) rs1569359505
NM_001281463.1(SMC1A):c.2012G>A (p.Arg671Gln) rs587784408
NM_001281463.1(SMC1A):c.219C>G (p.Ala73=) rs587784414
NM_001281463.1(SMC1A):c.2284A>G (p.Ile762Val) rs587784411
NM_001281463.1(SMC1A):c.232G>C (p.Gly78Arg) rs1569359487
NM_001281463.1(SMC1A):c.2354+5G>A rs1556889217
NM_001281463.1(SMC1A):c.2380C>T (p.Arg794Cys) rs1556888586
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.2726A>G (p.Gln909Arg) rs782728089
NM_001281463.1(SMC1A):c.2911G>T (p.Ala971Ser) rs782127256
NM_001281463.1(SMC1A):c.3080G>A (p.Arg1027Gln) rs587784416
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.3169A>G (p.Thr1057Ala) rs1602398590
NM_001281463.1(SMC1A):c.3186C>T (p.Ile1062=) rs587784417
NM_001281463.1(SMC1A):c.3224T>A (p.Phe1075Tyr) rs1131692271
NM_001281463.1(SMC1A):c.3324C>T (p.Gly1108=) rs374246357
NM_001281463.1(SMC1A):c.3441+3G>A rs1556885809
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.428C>T (p.Ala143Val) rs1556890833
NM_001281463.1(SMC1A):c.58A>G (p.Met20Val) rs1556891104
NM_001281463.1(SMC1A):c.74T>G (p.Phe25Cys) rs1569359530
NM_001281463.1(SMC1A):c.789-15C>T rs147791932
NM_001281463.1(SMC1A):c.793_795del (p.Lys265del) rs1556890626
NM_001281463.1(SMC1A):c.854A>G (p.His285Arg) rs1556890616
NM_006306.4(SMC1A):c.*1040G>A
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.*2936C>T
NM_006306.4(SMC1A):c.*3025C>T
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.*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.-7G>A
NM_006306.4(SMC1A):c.1203A>C (p.Lys401Asn)
NM_006306.4(SMC1A):c.1269A>G (p.Gln423=)
NM_006306.4(SMC1A):c.1436A>C (p.Gln479Pro)
NM_006306.4(SMC1A):c.1681A>C (p.Lys561Gln)
NM_006306.4(SMC1A):c.1682A>G (p.Lys561Arg)
NM_006306.4(SMC1A):c.1911G>A (p.Lys637=)
NM_006306.4(SMC1A):c.1917G>A (p.Val639=)
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.2314G>T (p.Val772Leu)
NM_006306.4(SMC1A):c.2320G>A (p.Asp774Asn)
NM_006306.4(SMC1A):c.2645C>T (p.Ser882Leu)
NM_006306.4(SMC1A):c.2700C>T (p.Gly900=)
NM_006306.4(SMC1A):c.2729AGG[1] (p.Glu911del)
NM_006306.4(SMC1A):c.2862+4A>G
NM_006306.4(SMC1A):c.2948A>G (p.Tyr983Cys)
NM_006306.4(SMC1A):c.2973G>A (p.Lys991=)
NM_006306.4(SMC1A):c.3053A>G (p.Gln1018Arg)
NM_006306.4(SMC1A):c.3131-13T>G
NM_006306.4(SMC1A):c.3460G>A (p.Val1154Ile)
NM_006306.4(SMC1A):c.3534G>C (p.Ser1178=)
NM_006306.4(SMC1A):c.3592G>A (p.Glu1198Lys)
NM_006306.4(SMC1A):c.37A>C (p.Lys13Gln)
NM_006306.4(SMC1A):c.392G>A (p.Arg131His)
NM_006306.4(SMC1A):c.452G>A (p.Arg151Lys)
NM_006306.4(SMC1A):c.512G>A (p.Arg171Gln)
NM_006306.4(SMC1A):c.854+6_854+7del

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