ClinVar Miner

List of variants in gene EVC, EVC2 studied for Ellis-van Creveld syndrome; Curry-Hall syndrome

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Total variants: 8
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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
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro) rs557830930 0.00093
NC_000004.11:g.(?_5565510)_(5811251_?)del
NC_000004.11:g.(?_5617139)_(5812774_?)del
NC_000004.11:g.(?_5682977)_(5735172_?)del
NC_000004.11:g.(?_5710003)_(5750043_?)del
NC_000004.12:g.(?_5562838)_(5758135_?)del

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