ClinVar Miner

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

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Total variants: 4
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NM_147127.5(EVC2):c.-15G>A rs76269601
NM_147127.5(EVC2):c.-19T>C rs188508515
NM_147127.5(EVC2):c.122C>A (p.Pro41His) rs544397395
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro) rs557830930

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