ClinVar Miner

List of variants in gene KIF22 reported as pathogenic for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_007317.3(KIF22):c.146G>A (p.Arg49Gln)
NM_007317.3(KIF22):c.442C>T (p.Pro148Ser) rs193922920
NM_007317.3(KIF22):c.443C>T (p.Pro148Leu) rs193922921
NM_007317.3(KIF22):c.446G>A (p.Arg149Gln) rs193922922
NM_007317.3(KIF22):c.446G>T (p.Arg149Leu) rs193922922

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