List of variants reported as likely pathogenic for Cranioectodermal dysplasia 1 by Invitae

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Total variants: 5

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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
NM_052989.3(IFT122):c.349+1G>A	rs1559869525
NM_052989.3(IFT122):c.416+2T>G	rs2108101855

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