List of variants reported as pathogenic for Ellis-van Creveld syndrome by Counsyl

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_153717.3(EVC):c.1886+5G>T	rs794726665	0.00036
NM_153717.3(EVC):c.1694del (p.Ala565fs)	rs753014919	0.00012
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter)	rs767072839	0.00006
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter)	rs769864196	0.00005
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter)	rs137852924	0.00004
NM_147127.5(EVC2):c.3659+2T>C	rs200300612	0.00003
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter)	rs121908425	0.00003
NM_147127.5(EVC2):c.3660del (p.Ser1220fs)	rs753581033	0.00002
NM_147127.5(EVC2):c.2476C>T (p.Arg826Ter)	rs548681312	0.00001
NM_147127.5(EVC2):c.2653C>T (p.Arg885Ter)	rs146538906	0.00001
NM_147127.5(EVC2):c.745C>T (p.Gln249Ter)	rs1236566474	0.00001
NM_153717.3(EVC):c.873dup (p.Glu292Ter)	rs527255616	0.00001
NM_147127.5(EVC2):c.2029C>T (p.Arg677Ter)	rs73198165
NM_153717.3(EVC):c.1056_1059dup (p.Glu354fs)	rs1553873969
NM_153717.3(EVC):c.1813C>T (p.Gln605Ter)	rs1553889992
NM_153717.3(EVC):c.2T>A (p.Met1Lys)	rs1553857801

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