ClinVar Miner

List of variants studied for Congenital muscular hypertrophy-cerebral syndrome by Illumina Clinical Services Laboratory,Illumina

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ClinVar version:
Total variants: 82
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HGVS dbSNP
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.*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.*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.*3305A>G rs1057515960
NM_001281463.1(SMC1A):c.*3421G>T rs41304780
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.*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.*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.*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.-275G>T
NM_001281463.1(SMC1A):c.1107G>A (p.Gln369=) rs147952638
NM_001281463.1(SMC1A):c.1188+11G>C rs144354524
NM_001281463.1(SMC1A):c.1632G>A (p.Glu544=) rs7052858
NM_001281463.1(SMC1A):c.3384C>T (p.Ala1128=) rs142611198
NM_001281463.1(SMC1A):c.346-10C>T rs149219651
NM_001281463.1(SMC1A):c.3525C>T (p.Ala1175=) rs146216425
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.1269A>G (p.Gln423=)
NM_006306.4(SMC1A):c.1917G>A (p.Val639=)
NM_006306.4(SMC1A):c.2061G>A (p.Glu687=)
NM_006306.4(SMC1A):c.2700C>T (p.Gly900=)
NM_006306.4(SMC1A):c.3131-13T>G
NM_006306.4(SMC1A):c.3534G>C (p.Ser1178=)

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