ClinVar Miner

List of variants in gene combination EVC, EVC2 reported as benign for Ellis-van Creveld syndrome; Curry-Hall syndrome

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Gene type:
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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe) rs6820907 0.17921
NM_147127.5(EVC2):c.122C>A (p.Pro41His) rs544397395 0.00286

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