List of variants in gene EVC reported as pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_153717.3(EVC):c.1886+5G>T	rs794726665	0.00036
NM_153717.3(EVC):c.1694del (p.Ala565fs)	rs753014919	0.00012
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.2731C>T (p.Arg911Ter)	rs767400887	0.00003
NM_153717.3(EVC):c.1777-2A>G	rs909612975	0.00001
NM_153717.3(EVC):c.873dup (p.Glu292Ter)	rs527255616	0.00001
GRCh37/hg19 4p16.2(chr4:5731034-5772656)x1
NM_153717.3(EVC):c.1036_1037del (p.Leu346fs)	rs767913372
NM_153717.3(EVC):c.1416del (p.Phe473fs)	rs768485560
NM_153717.3(EVC):c.1684C>T (p.Gln562Ter)	rs751772225
NM_153717.3(EVC):c.1783_1886+40del	rs2152326431
NM_153717.3(EVC):c.1886+5G>A	rs794726665
NM_153717.3(EVC):c.1887-5_1904del	rs779275317
NM_153717.3(EVC):c.2304+2T>C	rs1553892090
NM_153717.3(EVC):c.2329G>T (p.Glu777Ter)
NM_153717.3(EVC):c.414dup (p.Leu139fs)	rs2151935061

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