List of variants in gene DES reported as likely pathogenic by Invitae

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: 20

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HGVS	dbSNP	gnomAD frequency
NM_001927.4(DES):c.1288+1G>A	rs112224037	0.00002
NM_001927.4(DES):c.1055T>C (p.Leu352Ser)	rs775085773	0.00001
NM_001927.4(DES):c.854C>T (p.Ala285Val)	rs1368507241	0.00001
NC_000002.11:g.(?_220284797)_(220284897_?)dup
NM_001927.4(DES):c.1013T>C (p.Leu338Pro)	rs57496341
NM_001927.4(DES):c.1027_1032dup (p.Asp343_Ser344dup)	rs1954437523
NM_001927.4(DES):c.1130T>C (p.Leu377Pro)	rs1432061016
NM_001927.4(DES):c.1201G>A (p.Glu401Lys)	rs57694264
NM_001927.4(DES):c.1202A>G (p.Glu401Gly)	rs1954444202
NM_001927.4(DES):c.1204A>T (p.Ile402Phe)
NM_001927.4(DES):c.1214A>C (p.Tyr405Ser)	rs2125168913
NM_001927.4(DES):c.1217G>C (p.Arg406Pro)
NM_001927.4(DES):c.1237G>A (p.Glu413Lys)	rs61726467
NM_001927.4(DES):c.1244+1G>A
NM_001927.4(DES):c.1A>G (p.Met1Val)	rs1057523274
NM_001927.4(DES):c.2T>C (p.Met1Thr)	rs2125165615
NM_001927.4(DES):c.347A>T (p.Asn116Ile)	rs267607499
NM_001927.4(DES):c.579-2A>C
NM_001927.4(DES):c.732_735+3del
NM_001927.4(DES):c.976C>T (p.His326Tyr)	rs794728987

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