ClinVar Miner

List of variants in gene SMC1A studied for Developmental and epileptic encephalopathy, 85, with or without midline brain defects

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_006306.4(SMC1A):c.-19C>T rs1264011 0.42752
NM_006306.4(SMC1A):c.716A>G (p.Asn239Ser) rs782172948 0.00001
NM_006306.4(SMC1A):c.1072_1073del (p.Gln359fs) rs2146604738
NM_006306.4(SMC1A):c.1118A>G (p.Lys373Arg) rs2146604633
NM_006306.4(SMC1A):c.1301G>A (p.Arg434Gln)
NM_006306.4(SMC1A):c.1342_1348del (p.Ser448fs) rs2075702300
NM_006306.4(SMC1A):c.1844A>G (p.Asn615Ser) rs2146599772
NM_006306.4(SMC1A):c.1911+1G>T rs2075687835
NM_006306.4(SMC1A):c.2029AAG[1] (p.Lys678del) rs2146599562
NM_006306.4(SMC1A):c.2076del (p.Lys692fs) rs2146599361
NM_006306.4(SMC1A):c.2122del (p.Leu708fs) rs2146599339
NM_006306.4(SMC1A):c.2197G>T (p.Glu733Ter) rs2075681060
NM_006306.4(SMC1A):c.2364del (p.Asn788fs) rs2075680107
NM_006306.4(SMC1A):c.2394del (p.Lys798fs) rs1569356555
NM_006306.4(SMC1A):c.2477del (p.Asn826fs) rs2075664229
NM_006306.4(SMC1A):c.2683C>G (p.Arg895Gly) rs2075651835
NM_006306.4(SMC1A):c.2853_2856del (p.Ser951fs) rs863225458
NM_006306.4(SMC1A):c.3040C>T (p.Gln1014Ter)
NM_006306.4(SMC1A):c.3115C>T (p.Gln1039Ter) rs2075591576
NM_006306.4(SMC1A):c.3123del (p.Ser1042fs)
NM_006306.4(SMC1A):c.3145C>T (p.Arg1049Ter) rs2146582701
NM_006306.4(SMC1A):c.3181C>T (p.Gln1061Ter) rs2146582657
NM_006306.4(SMC1A):c.3549_3552dup (p.Ile1185fs) rs863225459
NM_006306.4(SMC1A):c.595G>A (p.Ala199Thr)
NM_006306.4(SMC1A):c.829CAG[2] (p.Gln279del)

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