ClinVar Miner

List of variants in gene IFT43 reported as benign for craniosynostosis

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001102564.3(IFT43):c.54+15G>T rs372505367 0.00105
NM_001102564.3(IFT43):c.486G>A (p.Ala162=) rs143729954 0.00049
NM_001102564.3(IFT43):c.55-17T>C rs200685248 0.00006

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