ClinVar Miner

List of variants in gene KIF1B reported as benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001365951.3(KIF1B):c.3423-15del rs3215996 0.03458
NM_001365951.3(KIF1B):c.608+8dup rs139613776 0.01962
NM_001365951.3(KIF1B):c.2115+6360G>T rs41274458 0.01961
NM_001365951.3(KIF1B):c.2115+6753A>G rs41274462 0.01960
NM_001365951.3(KIF1B):c.363+6A>C rs114084418 0.01751
NM_001365951.3(KIF1B):c.5432C>T (p.Pro1811Leu) rs61999305 0.01293
NM_001365951.3(KIF1B):c.4798G>A (p.Val1600Met) rs77172218 0.01096
NM_001365951.3(KIF1B):c.4086T>C (p.Asp1362=) rs116089798 0.01068
NM_001365951.3(KIF1B):c.3864+6A>C rs114266141 0.00716
NM_001365951.3(KIF1B):c.4055+6A>G rs76519832 0.00707
NM_001365951.3(KIF1B):c.2115+6956A>G rs148481786 0.00525
NM_001365951.3(KIF1B):c.5250A>G (p.Ala1750=) rs75413741 0.00415
NM_001365951.3(KIF1B):c.2115+6183T>C rs149241091 0.00357
NM_001365951.3(KIF1B):c.2115+7031T>C rs149267056 0.00320
NM_001365951.3(KIF1B):c.2330A>G (p.Asn777Ser) rs117525287 0.00228
NM_001365951.3(KIF1B):c.4596C>T (p.Pro1532=) rs147066476 0.00150
NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=) rs147318592 0.00092
NM_001365951.3(KIF1B):c.3885A>C (p.Thr1295=) rs139159572 0.00092
NM_001365951.3(KIF1B):c.2245T>C (p.Trp749Arg) rs551543997 0.00004
NM_001365951.3(KIF1B):c.184-6_184-5del rs138324955

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