ClinVar Miner

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

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_006306.4(SMC1A):c.-19C>T rs1264011 0.42752
NM_006306.4(SMC1A):c.*5481G>A rs147896900 0.01746
NM_006306.4(SMC1A):c.412-10C>T rs149219651 0.01511
NM_006306.4(SMC1A):c.*96C>T rs139317060 0.01188
NM_006306.4(SMC1A):c.*3838G>A rs144702614 0.01053
NM_006306.4(SMC1A):c.*2973C>T rs56110615 0.01037
NM_006306.4(SMC1A):c.*2423G>A rs147324052 0.00991
NM_006306.4(SMC1A):c.*5016T>C rs17002602 0.00919
NM_006306.4(SMC1A):c.2197-5T>C rs2297104 0.00852
NM_006306.4(SMC1A):c.*2389G>T rs114329529 0.00775
NM_006306.4(SMC1A):c.*5380G>A rs186354950 0.00739
NM_006306.4(SMC1A):c.*4645T>C rs150365487 0.00678
NM_006306.4(SMC1A):c.1698G>A (p.Glu566=) rs7052858 0.00452
NM_006306.4(SMC1A):c.*14C>T rs112727682 0.00436
NM_006306.4(SMC1A):c.*4952_*4953del rs782700101 0.00325
NM_006306.4(SMC1A):c.*4887T>C rs142173620 0.00318
NM_006306.4(SMC1A):c.*3421G>T rs41304780 0.00288
NM_006306.4(SMC1A):c.*1542T>C rs781783328 0.00263
NM_006306.4(SMC1A):c.1254+11G>C rs144354524 0.00258
NM_006306.4(SMC1A):c.3450C>T (p.Ala1150=) rs142611198 0.00183
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.*5444G>A rs181871602 0.00055
NM_006306.4(SMC1A):c.3591C>T (p.Ala1197=) rs146216425 0.00051
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.*1239T>C rs782502306 0.00023
NM_006306.4(SMC1A):c.*3851A>T rs782817464 0.00023
NM_006306.4(SMC1A):c.*5946C>T rs972532010 0.00021
NM_006306.4(SMC1A):c.1173G>A (p.Gln391=) rs147952638 0.00019
NM_006306.4(SMC1A):c.*2856A>T rs148128199 0.00018
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.*2540C>G rs182535846 0.00007
NM_006306.4(SMC1A):c.*2589A>G rs782291666 0.00007
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.*931A>G rs782237045 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.*3087G>A rs782024964
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.1495C>T (p.Arg499Ter) rs1556890135
NM_006306.4(SMC1A):c.1958C>T (p.Ser653Phe) rs2075687166
NM_006306.4(SMC1A):c.2039_2040del (p.Arg680fs) rs2146599539
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.3362G>A (p.Arg1121His) rs2075586377
NM_006306.4(SMC1A):c.3534G>C (p.Ser1178=) rs782763816
NM_006306.4(SMC1A):c.756C>G (p.Asp252Glu) rs370671274

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