List of variants reported as pathogenic for Ellis-van Creveld syndrome by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter)	rs767400887	0.00003
NM_147127.5(EVC2):c.1828C>T (p.Gln610Ter)
NM_147127.5(EVC2):c.2017_2021del (p.Thr673fs)	rs2108843144
NM_147127.5(EVC2):c.3454_3461dup (p.Gln1154fs)	rs1722451930
NM_153717.3(EVC):c.922_923del (p.Glu308fs)	rs1729200967

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