List of variants in gene DES reported as pathogenic by GeneDx

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_001927.4(DES):c.1285C>T (p.Arg429Ter)	rs150974575	0.00001
NM_001927.4(DES):c.634C>T (p.Arg212Ter)	rs781590560	0.00001
NM_001927.4(DES):c.757C>T (p.Gln253Ter)	rs1187516594	0.00001
NM_001927.4(DES):c.1216C>T (p.Arg406Trp)	rs121913003
NM_001927.4(DES):c.1237G>A (p.Glu413Lys)	rs61726467
NM_001927.4(DES):c.1360C>T (p.Arg454Trp)	rs267607490
NM_001927.4(DES):c.358G>C (p.Ala120Pro)	rs794728996
NM_001927.4(DES):c.735+3A>G	rs267607483

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