ClinVar Miner

List of variants in gene KIF1A studied for PEHO syndrome

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP
NM_004321.7(KIF1A):c.296C>T (p.Thr99Met)	rs387906799
NM_004321.7(KIF1A):c.646C>T (p.Arg216Cys)	rs797045164
NM_004321.7(KIF1A):c.647G>A (p.Arg216His)	rs672601368

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