List of variants in gene IFT122, LOC129937552 studied for Cranioectodermal dysplasia 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_052989.3(IFT122):c.41+15G>T	rs36222038	0.00084
NM_052989.3(IFT122):c.-3G>A	rs367704478	0.00008
NM_052989.3(IFT122):c.-12A>G
NM_052989.3(IFT122):c.-22C>A	rs551140180
NM_052989.3(IFT122):c.20G>C (p.Trp7Ser)
NM_052989.3(IFT122):c.21G>C (p.Trp7Cys)	rs267607193
NM_052989.3(IFT122):c.22A>T (p.Arg8Ter)
NM_052989.3(IFT122):c.25_26del (p.Arg8_Asp9insTer)
NM_052989.3(IFT122):c.39C>T (p.His13=)
NM_052989.3(IFT122):c.41+16G>A
NM_052989.3(IFT122):c.41+8G>A

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