List of variants reported as likely benign for Cranioectodermal dysplasia 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_052989.3(IFT122):c.2154C>T (p.His718=)	rs116819033	0.01164
NM_052989.3(IFT122):c.3432C>T (p.Ile1144=)	rs149884307	0.00277
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn)	rs150550701	0.00133
NM_052989.3(IFT122):c.3462G>A (p.Leu1154=)	rs150692598	0.00125
NM_052989.3(IFT122):c.3266-19C>T	rs201753855	0.00040
NM_052989.3(IFT122):c.2625C>T (p.Asn875=)	rs76572254	0.00036
NM_052989.3(IFT122):c.417-16T>C	rs192128912	0.00029
NM_052989.3(IFT122):c.1380C>T (p.Ser460=)	rs142641511	0.00021
NM_052989.3(IFT122):c.531G>A (p.Ser177=)	rs150496357	0.00021
NM_052989.3(IFT122):c.2424G>C (p.Leu808=)	rs148188237	0.00020
NM_052989.3(IFT122):c.3027C>T (p.Leu1009=)	rs373152133	0.00015
NM_052989.3(IFT122):c.2715C>T (p.Ala905=)	rs143748879	0.00014
NM_052989.3(IFT122):c.2987+15A>G	rs373111458	0.00011
NM_052989.3(IFT122):c.416+12T>C	rs141969308	0.00011
NM_052989.3(IFT122):c.1489-16G>A	rs576753615	0.00007
NM_052989.3(IFT122):c.2375+13C>T	rs749785449	0.00007
NM_052989.3(IFT122):c.3594G>T (p.Leu1198=)	rs775936679	0.00005
NM_052989.3(IFT122):c.2895G>A (p.Pro965=)	rs771092154	0.00004
NM_052989.3(IFT122):c.2904C>T (p.Val968=)	rs140575442	0.00004
NM_052989.3(IFT122):c.1629C>T (p.Ile543=)	rs372545849	0.00002
NM_052989.3(IFT122):c.2652G>A (p.Ala884=)	rs201147770	0.00002
NM_052989.3(IFT122):c.3504G>C (p.Val1168=)	rs368239028	0.00002
NM_052989.3(IFT122):c.42-17C>G	rs752213678	0.00002
NM_052989.3(IFT122):c.3586C>T (p.Arg1196Cys)	rs201590142

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