ClinVar Miner

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

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 91
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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 0.23676
NM_001365951.3(KIF1B):c.3398A>G (p.Tyr1133Cys) rs2297881 0.03425
NM_001365951.3(KIF1B):c.4753-20C>A rs192598799 0.00436
NM_001365951.3(KIF1B):c.5097-9C>T rs376873833 0.00108
NM_001365951.3(KIF1B):c.2159C>T (p.Thr720Ile) rs41274468 0.00024
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.899A>G (p.Lys300Arg) rs373698346 0.00009
NM_001365951.3(KIF1B):c.2675+3A>G rs200684032 0.00006
NM_001365951.3(KIF1B):c.4019C>A (p.Ser1340Tyr) rs202229713 0.00006
NM_001365951.3(KIF1B):c.2824G>A (p.Asp942Asn) rs370647925 0.00004
NM_001365951.3(KIF1B):c.4282G>A (p.Gly1428Ser) rs754234374 0.00004
NM_001365951.3(KIF1B):c.4525C>T (p.Arg1509Cys) rs757850683 0.00004
NM_001365951.3(KIF1B):c.1705A>G (p.Ile569Val) rs374848403 0.00003
NM_001365951.3(KIF1B):c.2516A>G (p.Tyr839Cys) rs778288202 0.00003
NM_001365951.3(KIF1B):c.3824C>G (p.Thr1275Arg) rs749610931 0.00003
NM_001365951.3(KIF1B):c.5203A>G (p.Ser1735Gly) rs775692548 0.00003
NM_001365951.3(KIF1B):c.1804C>T (p.Arg602Cys) rs767848662 0.00002
NM_001365951.3(KIF1B):c.3119A>G (p.Tyr1040Cys) rs751434716 0.00002
NM_001365951.3(KIF1B):c.3434G>A (p.Arg1145His) rs373663596 0.00002
NM_001365951.3(KIF1B):c.4445G>A (p.Arg1482Gln) rs367778973 0.00002
NM_001365951.3(KIF1B):c.4543C>T (p.Arg1515Cys) rs774445070 0.00002
NM_001365951.3(KIF1B):c.782A>G (p.Lys261Arg) rs868622074 0.00002
NM_001365951.3(KIF1B):c.109A>G (p.Ile37Val) rs779530504 0.00001
NM_001365951.3(KIF1B):c.1133G>A (p.Arg378Gln) rs750790168 0.00001
NM_001365951.3(KIF1B):c.2830G>A (p.Gly944Ser) rs755314640 0.00001
NM_001365951.3(KIF1B):c.3827C>T (p.Ala1276Val) rs747752091 0.00001
NM_001365951.3(KIF1B):c.392A>G (p.Asn131Ser) rs776533873 0.00001
NM_001365951.3(KIF1B):c.4297C>A (p.Pro1433Thr) rs757899517 0.00001
NM_001365951.3(KIF1B):c.4922C>T (p.Ser1641Phe) rs748589511 0.00001
NM_001365951.3(KIF1B):c.4970C>T (p.Ala1657Val) rs758879647 0.00001
NM_001365951.3(KIF1B):c.5036C>G (p.Ala1679Gly) rs776751303 0.00001
NM_001365951.3(KIF1B):c.5214C>G (p.Asp1738Glu) rs774464311 0.00001
NM_001365951.3(KIF1B):c.791G>A (p.Arg264Gln) rs376807805 0.00001
NM_014874.4(MFN2):c.1292C>T (p.Ser431Leu) rs764374251 0.00001
NM_001365951.3(KIF1B):c.1177G>T (p.Asp393Tyr)
NM_001365951.3(KIF1B):c.1300G>A (p.Ala434Thr)
NM_001365951.3(KIF1B):c.1565_1566insGTT (p.Thr522_Leu523insPhe)
NM_001365951.3(KIF1B):c.1770C>G (p.Ser590Arg) rs139764209
NM_001365951.3(KIF1B):c.1819G>A (p.Val607Ile)
NM_001365951.3(KIF1B):c.184-6T>G
NM_001365951.3(KIF1B):c.1927G>A (p.Glu643Lys)
NM_001365951.3(KIF1B):c.2042G>A (p.Arg681Lys)
NM_001365951.3(KIF1B):c.2115+5956T>G
NM_001365951.3(KIF1B):c.2115+5957C>T
NM_001365951.3(KIF1B):c.2115+6053G>A
NM_001365951.3(KIF1B):c.2115+6103C>T
NM_001365951.3(KIF1B):c.2115+6124T>C
NM_001365951.3(KIF1B):c.2115+6181G>A
NM_001365951.3(KIF1B):c.2115+6281A>G rs2102270489
NM_001365951.3(KIF1B):c.2115+6427T>G
NM_001365951.3(KIF1B):c.2115+6944A>T
NM_001365951.3(KIF1B):c.2115+6945_2115+6947del
NM_001365951.3(KIF1B):c.2115+7171G>T
NM_001365951.3(KIF1B):c.2115+7229G>A
NM_001365951.3(KIF1B):c.2115+7343G>A
NM_001365951.3(KIF1B):c.2137G>A (p.Ala713Thr)
NM_001365951.3(KIF1B):c.2235G>C (p.Glu745Asp)
NM_001365951.3(KIF1B):c.2389A>G (p.Thr797Ala)
NM_001365951.3(KIF1B):c.2501A>G (p.Asn834Ser)
NM_001365951.3(KIF1B):c.2665C>A (p.Leu889Ile)
NM_001365951.3(KIF1B):c.2839G>A (p.Ala947Thr)
NM_001365951.3(KIF1B):c.293A>T (p.Gln98Leu) rs121908160
NM_001365951.3(KIF1B):c.3157C>T (p.Arg1053Cys)
NM_001365951.3(KIF1B):c.3227C>T (p.Pro1076Leu)
NM_001365951.3(KIF1B):c.3334A>G (p.Lys1112Glu)
NM_001365951.3(KIF1B):c.3475G>C (p.Gly1159Arg)
NM_001365951.3(KIF1B):c.3541G>A (p.Val1181Met)
NM_001365951.3(KIF1B):c.3650G>A (p.Arg1217His) rs1652465916
NM_001365951.3(KIF1B):c.3798-3T>C
NM_001365951.3(KIF1B):c.3886G>C (p.Val1296Leu)
NM_001365951.3(KIF1B):c.3892A>G (p.Ile1298Val) rs529804940
NM_001365951.3(KIF1B):c.4056G>A (p.Arg1352=)
NM_001365951.3(KIF1B):c.4171-17A>G
NM_001365951.3(KIF1B):c.418T>A (p.Tyr140Asn)
NM_001365951.3(KIF1B):c.4366+4A>T
NM_001365951.3(KIF1B):c.4417C>T (p.Arg1473Trp)
NM_001365951.3(KIF1B):c.4567C>T (p.Pro1523Ser)
NM_001365951.3(KIF1B):c.4718G>A (p.Ser1573Asn)
NM_001365951.3(KIF1B):c.4819T>C (p.Cys1607Arg)
NM_001365951.3(KIF1B):c.4948A>C (p.Thr1650Pro)
NM_001365951.3(KIF1B):c.5047A>G (p.Lys1683Glu)
NM_001365951.3(KIF1B):c.5173G>A (p.Val1725Ile)
NM_001365951.3(KIF1B):c.5208C>A (p.Asp1736Glu) rs749483779
NM_001365951.3(KIF1B):c.526C>A (p.Pro176Thr)
NM_001365951.3(KIF1B):c.694A>G (p.Asn232Asp)
NM_032564.5(DGAT2):c.245T>C (p.Val82Ala)

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