List of variants reported as likely pathogenic for Cranioectodermal dysplasia 1 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_052989.3(IFT122):c.272+1G>A	rs372483083	0.00007
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro)	rs199622112	0.00004
NM_052989.3(IFT122):c.1148-1G>C	rs755005244	0.00002
NC_000003.11:g.(?_129168694)_(129236457_?)dup
NM_052989.3(IFT122):c.1148-2A>G
NM_052989.3(IFT122):c.193+2T>G
NM_052989.3(IFT122):c.2791+1G>A
NM_052989.3(IFT122):c.3265+1G>A
NM_052989.3(IFT122):c.349+1G>A	rs1559869525
NM_052989.3(IFT122):c.416+2T>G	rs2108101855

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