List of variants in gene DES reported as likely 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: 14

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HGVS	dbSNP	gnomAD frequency
NM_001927.4(DES):c.1288+1G>A	rs112224037	0.00002
NM_001927.4(DES):c.883T>G (p.Trp295Gly)	rs794728986	0.00001
NM_001927.4(DES):c.885G>A (p.Trp295Ter)	rs146755676	0.00001
NM_001927.4(DES):c.1013T>G (p.Leu338Arg)	rs57496341
NM_001927.4(DES):c.1223del (p.Leu408fs)	rs886041454
NM_001927.4(DES):c.130G>A (p.Gly44Ser)	rs1064794869
NM_001927.4(DES):c.1371+1G>C	rs748323823
NM_001927.4(DES):c.137C>A (p.Ser46Tyr)	rs60794845
NM_001927.4(DES):c.1412A>C (p.Ter471Ser)	rs794728991
NM_001927.4(DES):c.1A>G (p.Met1Val)	rs1057523274
NM_001927.4(DES):c.364T>G (p.Tyr122Asp)	rs794728994
NM_001927.4(DES):c.380G>C (p.Arg127Pro)	rs397516694
NM_001927.4(DES):c.735G>A (p.Glu245=)	rs267607486
NM_001927.4(DES):c.973C>T (p.Arg325Ter)	rs959034410

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