ClinVar Miner

List of variants in gene SMC1A reported as likely benign for Cornelia de Lange syndrome 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_001281463.1(SMC1A):c.-150C>T rs781999328
NM_001281463.1(SMC1A):c.1032G>A (p.Thr344=) rs140585416
NM_001281463.1(SMC1A):c.2884G>A (p.Gly962Ser) rs782381563
NM_001281463.1(SMC1A):c.3525C>T (p.Ala1175=) rs146216425
NM_001281463.1(SMC1A):c.3552+7C>T rs782267492
NM_001281463.1(SMC1A):c.3597C>T (p.Thr1199=) rs28997583
NM_006306.4(SMC1A):c.*3087G>A
NM_006306.4(SMC1A):c.1863C>T (p.Asn621=) rs782665597
NM_006306.4(SMC1A):c.2039G>A (p.Arg680His) rs1556889522
NM_006306.4(SMC1A):c.2556C>A (p.Leu852=) rs1602407405
NM_006306.4(SMC1A):c.3063C>T (p.Ala1021=) rs202083908
NM_006306.4(SMC1A):c.3177C>T (p.Phe1059=) rs375312256
NM_006306.4(SMC1A):c.3286-4C>T rs1556885985
NM_006306.4(SMC1A):c.579G>A (p.Ala193=) rs199571320
NM_006306.4(SMC1A):c.764G>A (p.Arg255His)

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