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

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Total variants: 11

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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.1612C>T (p.His538Tyr)
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.1363C>T (p.Gln455Ter)	rs1730766213
NM_153717.3(EVC):c.2449+1G>A	rs1553893423
NM_153717.3(EVC):c.2450-1G>A	rs1715585498
NM_153717.3(EVC):c.2T>A (p.Met1Lys)	rs1553857801
NM_153717.3(EVC):c.801del (p.Asp268fs)	rs777852863
NM_153717.3(EVC):c.922_923del (p.Glu308fs)	rs1729200967

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