ClinVar Miner

List of variants in gene combination EVC, LOC129992144 reported as pathogenic for Ellis-van Creveld syndrome; Curry-Hall syndrome

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.-1_1delinsTT (p.Met1Leu)
NM_153717.3(EVC):c.16del (p.Ala6fs) rs2151766718
NM_153717.3(EVC):c.1A>C (p.Met1Leu)
NM_153717.3(EVC):c.24del (p.Ala7_Cys8insTer) rs1553857828
NM_153717.3(EVC):c.25A>T (p.Lys9Ter) rs1425513399

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