ClinVar Miner

List of variants in gene EVC reported as pathogenic by Invitae

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Total variants: 11
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HGVS dbSNP
NC_000004.11:g.(?_5798729)_(5798979_?)del
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425
NM_153717.3(EVC):c.1056_1059dup (p.Glu354fs) rs1553873969
NM_153717.3(EVC):c.1312del (p.Arg438fs) rs1560340993
NM_153717.3(EVC):c.1405_1415dup (p.Ser472fs) rs1553876034
NM_153717.3(EVC):c.1539del (p.Glu514fs) rs759106605
NM_153717.3(EVC):c.1684C>T (p.Gln562Ter) rs751772225
NM_153717.3(EVC):c.1694del (p.Ala565fs) rs753014919
NM_153717.3(EVC):c.2236C>T (p.Gln746Ter) rs1446547358
NM_153717.3(EVC):c.724dup (p.Met242fs)
NM_153717.3(EVC):c.873dup (p.Glu292Ter) rs527255616

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