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

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: 13

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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.2894+3A>G	rs1424976594	0.00001
NM_153717.3(EVC):c.364C>T (p.Pro122Ser)	rs1407007311	0.00001
NM_153717.3(EVC):c.928C>G (p.Leu310Val)	rs145300726	0.00001
NM_153717.3(EVC):c.134G>A (p.Trp45Ter)	rs1553857995
NM_153717.3(EVC):c.172C>T (p.Gln58Ter)	rs1057517899
NM_153717.3(EVC):c.1771C>T (p.Gln591Ter)	rs2152289454
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter)	rs1553891936
NM_153717.3(EVC):c.2416del (p.Glu806fs)	rs2152362140
NM_153717.3(EVC):c.384+5G>C	rs1553865348
NM_153717.3(EVC):c.645_647delinsG (p.Ser215fs)	rs2474716865
NM_153717.3(EVC):c.770T>A (p.Leu257Gln)	rs750565190
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del)	rs755381180

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