ClinVar Miner

List of variants in gene DES reported as likely pathogenic by KTest Genetics, KTest

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001927.4(DES):c.193G>A (p.Gly65Ser)	rs397516692	0.00008
NM_001927.4(DES):c.83C>T (p.Ser28Phe)	rs1954361986	0.00001

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