List of variants reported as benign for Ellis-van Creveld syndrome by Pars Genome Lab

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Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_153717.3(EVC):c.769C>T (p.Leu257=)	rs6446393	0.95639
NM_153717.3(EVC):c.772T>C (p.Tyr258His)	rs6414624	0.72068
NM_153717.3(EVC):c.939+10A>G	rs2286342	0.67122
NM_153717.3(EVC):c.802-15C>T	rs4689313	0.60798
NM_153717.3(EVC):c.939+63C>A	rs13145958	0.55696
NM_153717.3(EVC):c.1098+51A>T	rs4688961	0.52782
NM_153717.3(EVC):c.1026G>C (p.Leu342=)	rs4688962	0.52761
NM_153717.3(EVC):c.969T>C (p.Asn323=)	rs4688963	0.40746
NM_153717.3(EVC):c.1099-19T>C	rs899691	0.37351
NM_153717.3(EVC):c.939+4C>T	rs2286343	0.33466
NM_153717.3(EVC):c.1563+1771A>G	rs6828631	0.27419
NM_153717.3(EVC):c.1068A>G (p.Leu356=)	rs33929747	0.26691
NM_153717.3(EVC):c.939+114G>A	rs28609792	0.21365
NM_153717.3(EVC):c.801+240C>T	rs1480169	0.20327
NM_153717.3(EVC):c.1465-47A>C	rs4642178	0.20086
NM_153717.3(EVC):c.301-80G>A	rs2276875	0.17578
NM_153717.3(EVC):c.1563+1897C>T	rs56328334	0.16475
NM_153717.3(EVC):c.249A>G (p.Ser83=)	rs35870680	0.09998
NM_153717.3(EVC):c.618-121G>A	rs75063475	0.09118
NM_153717.3(EVC):c.384+41C>T	rs113870218	0.08516
NM_153717.3(EVC):c.221A>C (p.Gln74Pro)	rs2291157	0.07908
NM_153717.3(EVC):c.1115C>T (p.Thr372Met)	rs28483498	0.06438
NM_153717.3(EVC):c.341C>T (p.Ala114Val)	rs16837598	0.05943
NM_153717.3(EVC):c.385-16C>T	rs113571700	0.00995
NM_153717.3(EVC):c.1099-167G>C	rs6810769
NM_153717.3(EVC):c.1099-208C>T	rs6812234
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys)	rs2302075
NM_153717.3(EVC):c.1563+185A>G	rs12499655

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