ClinVar Miner

List of variants in gene KIF1A reported as benign by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001244008.2(KIF1A):c.991T>C (p.Leu331=) rs1063353 0.45235
NM_001244008.2(KIF1A):c.864+16C>T rs2288750 0.27959
NM_001244008.2(KIF1A):c.3641-8C>T rs56024577 0.22160
NM_001244008.2(KIF1A):c.2977+13C>T rs116600932 0.02829
NM_001244008.2(KIF1A):c.4812C>A (p.Thr1604=) rs76974316 0.00862

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