List of variants reported as likely benign for Ellis-van Creveld syndrome by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_153717.3(EVC):c.284A>G (p.Asp95Gly)	rs41269547	0.00561
NM_153717.3(EVC):c.1127C>T (p.Ala376Val)	rs142535134	0.00309
NM_153717.3(EVC):c.550G>A (p.Asp184Asn)	rs41269549	0.00194
NM_153717.3(EVC):c.93C>G (p.Ala31=)	rs866226288	0.00194
NM_153717.3(EVC):c.1500G>A (p.Met500Ile)	rs149898884	0.00163
NM_153717.3(EVC):c.1040C>T (p.Thr347Met)	rs34947207	0.00127
NM_153717.3(EVC):c.1464+5C>T	rs369734950	0.00120
NM_153717.3(EVC):c.2322G>C (p.Ala774=)	rs150373930	0.00067
NM_153717.3(EVC):c.1536C>T (p.Ala512=)	rs368554773	0.00016
NM_153717.3(EVC):c.105C>A (p.Gly35=)	rs745558003	0.00015
NM_153717.3(EVC):c.759A>G (p.Ser253=)	rs201105095	0.00009
NM_153717.3(EVC):c.1980G>A (p.Thr660=)	rs537471996	0.00006
NM_153717.3(EVC):c.2868C>T (p.Ser956=)	rs757526901	0.00006
NM_153717.3(EVC):c.534C>A (p.Val178=)	rs774703104	0.00006
NM_153717.3(EVC):c.1896G>T (p.Arg632=)	rs758327867	0.00004
NM_153717.3(EVC):c.219G>A (p.Ala73=)	rs759816860	0.00004
NM_153717.3(EVC):c.2412C>T (p.His804=)	rs553232598	0.00004
NM_153717.3(EVC):c.717T>A (p.Ile239=)	rs372312182	0.00004
NM_153717.3(EVC):c.1059C>T (p.Ala353=)	rs756025432	0.00003
NM_153717.3(EVC):c.2649C>T (p.Val883=)	rs1483799016	0.00003
NM_153717.3(EVC):c.1101C>T (p.Asp367=)	rs186537549	0.00001
NM_153717.3(EVC):c.1315+8G>A	rs550411377	0.00001
NM_153717.3(EVC):c.1602C>T (p.Phe534=)	rs766294209	0.00001
NM_153717.3(EVC):c.2520G>A (p.Thr840=)	rs187406722	0.00001
NM_153717.3(EVC):c.510C>T (p.Asp170=)	rs757930422	0.00001
NM_153717.3(EVC):c.162C>T (p.Arg54=)	rs1305323625
NM_153717.3(EVC):c.1776+7G>A	rs750719632
NM_153717.3(EVC):c.1854C>A (p.Gly618=)	rs11737221
NM_153717.3(EVC):c.1995G>T (p.Ser665=)	rs142897994
NM_153717.3(EVC):c.2274G>A (p.Lys758=)	rs199611644
NM_153717.3(EVC):c.2913G>A (p.Gln971=)	rs370649784
NM_153717.3(EVC):c.933C>T (p.Ile311=)	rs759718572

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