ClinVar Miner

List of variants in gene combination IFT122, LOC126806810 reported as benign for Cranioectodermal dysplasia 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_052989.3(IFT122):c.2060G>A (p.Arg687Gln)	rs61740161	0.07498
NM_052989.3(IFT122):c.2154C>T (p.His718=)	rs116819033	0.01164

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