ClinVar Miner

List of variants in gene SMC1A reported by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_006306.4(SMC1A):c.1192C>T (p.Arg398Ter)	rs886041902
NM_006306.4(SMC1A):c.1813_1814del (p.Ile605fs)	rs2146599783
NM_006306.4(SMC1A):c.2420G>A (p.Arg807His)	rs1569356550

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