ClinVar Miner

List of variants in gene combination EVC2, LOC126806961 reported as pathogenic for Ellis-van Creveld syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter)	rs137852924	0.00003
NM_147127.5(EVC2):c.1330C>T (p.Gln444Ter)	rs372215987

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