List of variants reported as pathogenic for Cranioectodermal dysplasia 1 by OMIM

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro)	rs199622112	0.00004
NM_052989.3(IFT122):c.349+5G>A	rs376595844	0.00004
NM_052989.3(IFT122):c.965C>T (p.Ser322Phe)	rs267607192	0.00003
NM_052989.3(IFT122):c.1483G>A (p.Gly495Arg)	rs397515568	0.00001
NM_052989.3(IFT122):c.1505T>G (p.Val502Gly)	rs267607191
NM_052989.3(IFT122):c.21G>C (p.Trp7Cys)	rs267607193
NM_052989.3(IFT122):c.273-281_273-271del	rs1559868433
NM_052989.3(IFT122):c.3076_3079delinsG (p.Tyr1026_Ile1027delinsVal)	rs2083230922
NM_052989.3(IFT122):c.3726A>G (p.Ter1242Trp)	rs2108740086
NM_052989.3(IFT122):c.955del (p.Glu319fs)	rs397515567

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