List of variants in gene EVC reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter)	rs121908425	0.00003
NM_153717.3(EVC):c.175-2A>G	rs767186464	0.00003
NM_153717.3(EVC):c.1777-2A>G	rs909612975	0.00001
GRCh37/hg19 4p16.2(chr4:5731034-5772656)x1
NM_153717.3(EVC):c.758C>G (p.Ser253Ter)	rs762795511

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