List of variants in gene SMC1A reported as likely pathogenic for Inborn genetic diseases

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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_006306.4(SMC1A):c.1994G>A (p.Arg665His)	rs2520927651
NM_006306.4(SMC1A):c.2351T>C (p.Ile784Thr)	rs387906702
NM_006306.4(SMC1A):c.2368C>T (p.Arg790Trp)	rs587784412
NM_006306.4(SMC1A):c.3197G>A (p.Arg1066His)	rs1556886034
NM_006306.4(SMC1A):c.3578T>G (p.Phe1193Cys)	rs869312954

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