List of variants reported as uncertain significance for Ellis-van Creveld syndrome by Baylor Genetics

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg)	rs141287105	0.00406
NM_147127.5(EVC2):c.2416G>A (p.Val806Met)	rs138128087	0.00028
NM_147127.5(EVC2):c.3696G>T (p.Arg1232Ser)	rs150551872	0.00005
NM_147127.5(EVC2):c.1371A>C (p.Glu457Asp)	rs368371226	0.00002
NM_147127.5(EVC2):c.973T>C (p.Cys325Arg)	rs1467471693	0.00002
NM_147127.5(EVC2):c.1374T>G (p.Cys458Trp)	rs1717255624
NM_147127.5(EVC2):c.2959G>A (p.Ala987Thr)	rs750392808
NM_153717.3(EVC):c.1078T>C (p.Ser360Pro)	rs1729675412
NM_153717.3(EVC):c.493A>G (p.Ser165Gly)	rs1259803475

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