ClinVar Miner

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

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP
NM_001281463.1(SMC1A):c.3224T>A (p.Phe1075Tyr) rs1131692271
NM_006306.3(SMC1A):c.-1C>T rs797044618
NM_006306.3(SMC1A):c.1190A>G (p.Asn397Ser) rs782697006
NM_006306.3(SMC1A):c.1254+11G>C rs144354524
NM_006306.3(SMC1A):c.1254+5G>A
NM_006306.3(SMC1A):c.140T>G (p.Phe47Cys)
NM_006306.3(SMC1A):c.1545+4A>C rs377270943
NM_006306.3(SMC1A):c.1876C>T (p.Arg626Cys) rs1556889577
NM_006306.3(SMC1A):c.1877G>A (p.Arg626His) rs587784407
NM_006306.3(SMC1A):c.2078G>A (p.Arg693Gln) rs587784408
NM_006306.3(SMC1A):c.227A>G (p.Asn76Ser)
NM_006306.3(SMC1A):c.2350A>G (p.Ile784Val) rs587784411
NM_006306.3(SMC1A):c.2420+5G>A
NM_006306.3(SMC1A):c.2446C>T (p.Arg816Cys) rs1556888586
NM_006306.3(SMC1A):c.261_272delGGGTGCTGAGGA (p.Glu87_Glu90del)
NM_006306.3(SMC1A):c.2708A>G (p.Lys903Arg)
NM_006306.3(SMC1A):c.2738C>T (p.Thr913Ile)
NM_006306.3(SMC1A):c.2792A>G (p.Gln931Arg)
NM_006306.3(SMC1A):c.285C>G (p.Ala95=) rs587784414
NM_006306.3(SMC1A):c.2950G>A (p.Gly984Ser) rs782381563
NM_006306.3(SMC1A):c.2977G>T (p.Ala993Ser)
NM_006306.3(SMC1A):c.298G>C (p.Gly100Arg)
NM_006306.3(SMC1A):c.3146G>A (p.Arg1049Gln) rs587784416
NM_006306.3(SMC1A):c.3186C>G (p.Ile1062Met)
NM_006306.3(SMC1A):c.3252C>T (p.Ile1084=) rs587784417
NM_006306.3(SMC1A):c.3461T>A (p.Val1154Asp)
NM_006306.3(SMC1A):c.3507+3G>A rs1556885809
NM_006306.3(SMC1A):c.3592G>C (p.Glu1198Gln) rs782175064
NM_006306.3(SMC1A):c.855-15C>T rs147791932
NM_006306.3(SMC1A):c.859_861delAAG (p.Lys287del) rs1556890626
NM_006306.3(SMC1A):c.920A>G (p.His307Arg) rs1556890616

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