List of variants in gene EVC2 reported as pathogenic by Revvity Omics, Revvity

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter)	rs769864196	0.00005
NM_147127.5(EVC2):c.3659+2T>C	rs200300612	0.00003
NM_147127.5(EVC2):c.2029C>T (p.Arg677Ter)	rs73198165
NM_147127.5(EVC2):c.3091C>T (p.Gln1031Ter)	rs370438593
NM_147127.5(EVC2):c.3141G>A (p.Trp1047Ter)	rs886037764
NM_147127.5(EVC2):c.3361-2del	rs757914735

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