List of variants reported as likely pathogenic for Cranioectodermal dysplasia 1

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Total variants: 13

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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.965C>T (p.Ser322Phe)	rs267607192	0.00003
NM_052989.3(IFT122):c.1148-1G>C	rs755005244	0.00002
NM_052989.3(IFT122):c.1367G>A (p.Cys456Tyr)	rs1335391766	0.00001
NM_052989.3(IFT122):c.1532T>C (p.Leu511Pro)	rs372355939	0.00001
NM_052989.3(IFT122):c.2017C>T (p.Arg673Ter)	rs1185183557	0.00001
NM_052989.3(IFT122):c.1493T>C (p.Leu498Pro)	rs2108328020
NM_052989.3(IFT122):c.172T>C (p.Cys58Arg)	rs2074912574
NM_052989.3(IFT122):c.273-281_273-271del	rs1559868433
NM_052989.3(IFT122):c.349+1G>A	rs1559869525
NM_052989.3(IFT122):c.416+2T>G	rs2108101855
NM_052989.3(IFT122):c.896G>A (p.Gly299Asp)	rs2077955754

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