ClinVar Miner

List of variants in gene IFT52 reported as pathogenic for craniosynostosis

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_016004.5(IFT52):c.293A>G (p.Asn98Ser) rs530999984 0.00001
NM_016004.5(IFT52):c.424C>T (p.Arg142Ter) rs748090019 0.00001
NM_016004.5(IFT52):c.595G>A (p.Ala199Thr) rs886037869 0.00001
NM_016004.5(IFT52):c.556A>G (p.Thr186Ala) rs1983651325
NM_016004.5(IFT52):c.695_699delinsCA (p.Ile232_Met233delinsThr) rs1984074001
NM_016004.5(IFT52):c.878del (p.Leu293fs) rs886037870

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