ClinVar Miner

List of variants in gene KIF1A reported as pathogenic for PEHO syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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NM_001244008.1(KIF1A):c.296C>T (p.Thr99Met) rs387906799
NM_001244008.1(KIF1A):c.646C>T (p.Arg216Cys) rs797045164
NM_001244008.1(KIF1A):c.647G>A (p.Arg216His) rs672601368

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