List of variants in gene EVC reported by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter)	rs767400887	0.00003
NM_153717.3(EVC):c.1363C>T (p.Gln455Ter)	rs1730766213
NM_153717.3(EVC):c.2449+1G>A	rs1553893423
NM_153717.3(EVC):c.2450-1G>A	rs1715585498
NM_153717.3(EVC):c.770T>A (p.Leu257Gln)	rs750565190
NM_153717.3(EVC):c.801del (p.Asp268fs)	rs777852863
NM_153717.3(EVC):c.922_923del (p.Glu308fs)	rs1729200967

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