ClinVar Miner

List of variants in gene SMC1A reported as uncertain significance by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_006306.4(SMC1A):c.*2609A>C rs192734396 0.00092
NM_006306.4(SMC1A):c.*2435T>G rs782650092 0.00062
NM_006306.4(SMC1A):c.*488A>G rs956422392 0.00061
NM_006306.4(SMC1A):c.*4382A>G rs906340789 0.00055
NM_006306.4(SMC1A):c.*4443G>A rs782630117 0.00050
NM_006306.4(SMC1A):c.*5355G>A rs782143840 0.00050
NM_006306.4(SMC1A):c.*2948G>T rs183355603 0.00049
NM_006306.4(SMC1A):c.*5489G>T rs1007398058 0.00040
NM_006306.4(SMC1A):c.*1961C>T rs986586627 0.00036
NM_006306.4(SMC1A):c.*578C>T rs782042924 0.00028
NM_006306.4(SMC1A):c.*5946C>T rs972532010 0.00021
NM_006306.4(SMC1A):c.*3777C>G rs41315082 0.00013
NM_006306.4(SMC1A):c.*381A>G rs184957599 0.00011
NM_006306.4(SMC1A):c.*1914A>G rs964056946 0.00010
NM_006306.4(SMC1A):c.*3025C>T rs782139355 0.00010
NM_006306.4(SMC1A):c.*348C>T rs782700234 0.00010
NM_006306.4(SMC1A):c.*1040G>A rs79382603 0.00005
NM_006306.4(SMC1A):c.*2050T>C rs1057515964 0.00005
NM_006306.4(SMC1A):c.*2225G>A rs1047323522 0.00005
NM_006306.4(SMC1A):c.*4998T>C rs899071356 0.00005
NM_006306.4(SMC1A):c.*2663C>T rs1057515961 0.00004
NM_006306.4(SMC1A):c.*4156A>G rs999754790 0.00004
NM_006306.4(SMC1A):c.*703G>T rs189126241 0.00004
NM_006306.4(SMC1A):c.*4087G>A rs1057515957 0.00003
NM_006306.4(SMC1A):c.*4581T>C rs1057515955 0.00003
NM_006306.4(SMC1A):c.*675A>G rs1415804526 0.00003
NM_006306.4(SMC1A):c.*1934T>C rs1311438037 0.00002
NM_006306.4(SMC1A):c.*3484G>A rs1215730078 0.00002
NM_006306.4(SMC1A):c.*4367T>C rs1003358509 0.00002
NM_006306.4(SMC1A):c.*5197T>C rs782050365 0.00002
NM_006306.4(SMC1A):c.-7G>A rs1368401429 0.00002
NM_006306.4(SMC1A):c.*2086T>C rs1173339282 0.00001
NM_006306.4(SMC1A):c.*3596C>T rs2075560234 0.00001
NM_006306.4(SMC1A):c.*3671C>T rs1057515959 0.00001
NM_006306.4(SMC1A):c.*41G>A rs782548345 0.00001
NM_006306.4(SMC1A):c.*5251G>T rs188308804 0.00001
NM_006306.4(SMC1A):c.*5451A>G rs782308559 0.00001
NM_006306.4(SMC1A):c.*5692G>A rs1057515952 0.00001
NM_006306.4(SMC1A):c.*5855G>T rs1289923605 0.00001
NM_006306.4(SMC1A):c.1917G>A (p.Val639=) rs782292864 0.00001
NM_001281463.1(SMC1A):c.-275G>T rs1026058160
NM_006306.4(SMC1A):c.*1028C>T rs1057515967
NM_006306.4(SMC1A):c.*1240A>G rs1057515966
NM_006306.4(SMC1A):c.*1559G>A rs782736361
NM_006306.4(SMC1A):c.*1967C>T rs2075567451
NM_006306.4(SMC1A):c.*2490T>C rs1057515962
NM_006306.4(SMC1A):c.*2936C>T rs782494133
NM_006306.4(SMC1A):c.*3305A>G rs1057515960
NM_006306.4(SMC1A):c.*3392T>C rs2075561045
NM_006306.4(SMC1A):c.*3807G>A rs1057515958
NM_006306.4(SMC1A):c.*5051G>T rs2075555081
NM_006306.4(SMC1A):c.*5352C>T rs1057515953
NM_006306.4(SMC1A):c.*5443C>G rs375348750
NM_006306.4(SMC1A):c.*5506A>T rs2075553176
NM_006306.4(SMC1A):c.*5722A>T rs2075552232
NM_006306.4(SMC1A):c.*5853A>G rs2075551728
NM_006306.4(SMC1A):c.*5915T>C rs1057515951
NM_006306.4(SMC1A):c.*626A>G rs1057515970
NM_006306.4(SMC1A):c.*665A>G rs1057515969
NM_006306.4(SMC1A):c.*817ACAG[1] rs1057515968
NM_006306.4(SMC1A):c.1269A>G (p.Gln423=) rs2075703211
NM_006306.4(SMC1A):c.2061G>A (p.Glu687=) rs2075686281
NM_006306.4(SMC1A):c.2700C>T (p.Gly900=) rs186510389
NM_006306.4(SMC1A):c.3131-13T>G rs1273874101
NM_006306.4(SMC1A):c.3534G>C (p.Ser1178=) rs782763816
NM_006306.4(SMC1A):c.756C>G (p.Asp252Glu) rs370671274

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