List of variants in gene SMC1A reported as likely pathogenic for complex neurodevelopmental disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_006306.4(SMC1A):c.1072_1073del (p.Gln359fs)	rs2146604738
NM_006306.4(SMC1A):c.1342_1348del (p.Ser448fs)	rs2075702300
NM_006306.4(SMC1A):c.1832dup (p.Tyr611Ter)
NM_006306.4(SMC1A):c.2029AAG[1] (p.Lys678del)	rs2146599562
NM_006306.4(SMC1A):c.2131C>T (p.Arg711Trp)	rs587784409
NM_006306.4(SMC1A):c.2299del (p.Glu767fs)
NM_006306.4(SMC1A):c.3040C>T (p.Gln1014Ter)
NM_006306.4(SMC1A):c.3118G>A (p.Glu1040Lys)
NM_006306.4(SMC1A):c.3146G>A (p.Arg1049Gln)	rs587784416
NM_006306.4(SMC1A):c.3181C>T (p.Gln1061Ter)	rs2146582657
NM_006306.4(SMC1A):c.829CAG[2] (p.Gln279del)

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