ClinVar Miner

List of variants in gene combination KIF1B, LOC126805614 reported as likely benign for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (95):
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Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001365951.3(KIF1B):c.2827G>A (p.Ala943Thr) rs142567076 0.00037
NM_001365951.3(KIF1B):c.2829C>T (p.Ala943=) rs745644299 0.00005
NM_001365951.3(KIF1B):c.2676-18G>A rs768886781 0.00004
NM_001365951.3(KIF1B):c.2727C>T (p.Pro909=) rs200858074 0.00004
NM_001365951.3(KIF1B):c.2691C>T (p.His897=) rs566526002 0.00003
NM_001365951.3(KIF1B):c.2715C>T (p.Ala905=) rs143046587 0.00003
NM_001365951.3(KIF1B):c.2892C>T (p.Tyr964=) rs986716280 0.00003
NM_001365951.3(KIF1B):c.2775C>T (p.Asp925=) rs773568203 0.00002
NM_001365951.3(KIF1B):c.2676-7T>C rs774505807 0.00001
NM_001365951.3(KIF1B):c.2703C>T (p.Asn901=) rs753514870 0.00001
NM_001365951.3(KIF1B):c.2724A>C (p.Thr908=) rs1428919885 0.00001
NM_001365951.3(KIF1B):c.2733C>A (p.Pro911=) rs746863711 0.00001
NM_001365951.3(KIF1B):c.2748C>T (p.Ala916=) rs1282913811 0.00001
NM_001365951.3(KIF1B):c.2838C>T (p.Asp946=) rs138353787 0.00001
NM_001365951.3(KIF1B):c.2886G>A (p.Pro962=) rs763515223 0.00001
NM_001365951.3(KIF1B):c.2676-19C>T
NM_001365951.3(KIF1B):c.2676-6_2676-5del rs2102301578
NM_001365951.3(KIF1B):c.2733C>T (p.Pro911=) rs746863711
NM_001365951.3(KIF1B):c.2754C>T (p.Ser918=)
NM_001365951.3(KIF1B):c.2760C>T (p.Ile920=)
NM_001365951.3(KIF1B):c.2796G>A (p.Glu932=)
NM_001365951.3(KIF1B):c.2817C>T (p.Phe939=)
NM_001365951.3(KIF1B):c.2820G>A (p.Val940=) rs2102301840
NM_001365951.3(KIF1B):c.2826C>T (p.Asp942=)
NM_001365951.3(KIF1B):c.2847G>A (p.Thr949=)
NM_001365951.3(KIF1B):c.2850G>A (p.Glu950=)
NM_001365951.3(KIF1B):c.2924+16G>C
NM_001365951.3(KIF1B):c.2924+18G>A
NM_001365951.3(KIF1B):c.2924+18G>T

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