List of variants studied for cranioectodermal dysplasia by GeneReviews

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Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_052989.3(IFT122):c.349+5G>A	rs376595844	0.00004
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)	rs387906980	0.00003
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_001102564.3(IFT43):c.1A>G (p.Met1Val)	rs387907107
NM_020779.4(WDR35):c.1844A>G (p.Glu615Gly)	rs267607174
NM_025132.4(WDR19):c.3307C>T (p.Arg1103Ter)	rs387906981
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.955del (p.Glu319fs)	rs397515567

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