ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 2A1

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001365951.3(KIF1B):c.1777+10C>T rs3753037 0.26503
NM_001365951.3(KIF1B):c.720+17C>T rs1339458 0.25792
NM_001365951.3(KIF1B):c.285C>G (p.Ala95=) rs12402052 0.24010
NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=) rs11121552 0.23876
NM_001365951.3(KIF1B):c.3398A>G (p.Tyr1133Cys) rs2297881 0.03425
NM_001365951.3(KIF1B):c.2159C>T (p.Thr720Ile) rs41274468 0.00023
NM_001365951.3(KIF1B):c.1594C>G (p.Pro532Ala) rs201500946 0.00013
NM_001365951.3(KIF1B):c.4820G>A (p.Cys1607Tyr) rs145969842 0.00013
NM_001365951.3(KIF1B):c.3407T>C (p.Ile1136Thr) rs374098797 0.00009
NM_001365951.3(KIF1B):c.4525C>T (p.Arg1509Cys) rs757850683 0.00004
NM_001365951.3(KIF1B):c.3334A>G (p.Lys1112Glu) rs35870526 0.00003
NM_001365951.3(KIF1B):c.3824C>G (p.Thr1275Arg) rs749610931 0.00003
NM_001365951.3(KIF1B):c.5203A>G (p.Ser1735Gly) rs775692548 0.00002
NM_001365951.3(KIF1B):c.1927G>A (p.Glu643Lys) rs1650297228 0.00001
NM_001365951.3(KIF1B):c.2830G>A (p.Gly944Ser) rs755314640 0.00001
NM_001365951.3(KIF1B):c.3475G>C (p.Gly1159Arg) rs1194469975 0.00001
NM_001365951.3(KIF1B):c.3892A>G (p.Ile1298Val) rs529804940 0.00001
NM_001365951.3(KIF1B):c.4922C>T (p.Ser1641Phe) rs748589511 0.00001
NM_001365951.3(KIF1B):c.791G>A (p.Arg264Gln) rs376807805 0.00001
NM_001365951.3(KIF1B):c.197G>A (p.Cys66Tyr)
NM_001365951.3(KIF1B):c.2042G>A (p.Arg681Lys) rs751423624
NM_001365951.3(KIF1B):c.2115+5957C>T rs1176805638
NM_001365951.3(KIF1B):c.2115+6281A>G rs2102270489
NM_001365951.3(KIF1B):c.2137G>A (p.Ala713Thr) rs1354927981
NM_001365951.3(KIF1B):c.2362C>G (p.Gln788Glu) rs1651618189
NM_001365951.3(KIF1B):c.2544G>T (p.Arg848Ser)
NM_001365951.3(KIF1B):c.293A>T (p.Gln98Leu) rs121908160
NM_001365951.3(KIF1B):c.3650G>A (p.Arg1217His) rs1652465916
NM_001365951.3(KIF1B):c.4171-17A>G
NM_001365951.3(KIF1B):c.4567C>T (p.Pro1523Ser) rs1423618847
NM_001365951.3(KIF1B):c.5260T>G (p.Tyr1754Asp) rs1361142669
NM_032564.5(DGAT2):c.245T>C (p.Val82Ala) rs376527356

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