ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 2A1; Neuroblastoma, susceptibility to, 1

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Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_001365951.3(KIF1B):c.3398A>G (p.Tyr1133Cys) rs2297881 0.03425
NM_001365951.3(KIF1B):c.2115+6581G>A rs41274460 0.00089
NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile) rs121908162 0.00040
NM_001365951.3(KIF1B):c.4967G>A (p.Arg1656Gln) rs373439616 0.00017
NM_001365951.3(KIF1B):c.184-6T>G rs761723354 0.00015
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.1364C>T (p.Thr455Met) rs201474903 0.00006
NM_001365951.3(KIF1B):c.2675+3A>G rs200684032 0.00006
NM_001365951.3(KIF1B):c.4019C>A (p.Ser1340Tyr) rs202229713 0.00005
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.2115+7343G>A rs1317439961 0.00003
NM_001365951.3(KIF1B):c.2516A>G (p.Tyr839Cys) rs778288202 0.00003
NM_001365951.3(KIF1B):c.3157C>T (p.Arg1053Cys) rs778237450 0.00003
NM_001365951.3(KIF1B):c.1300G>A (p.Ala434Thr) rs775090163 0.00002
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.4445G>A (p.Arg1482Gln) rs367778973 0.00002
NM_001365951.3(KIF1B):c.4543C>T (p.Arg1515Cys) rs774445070 0.00002
NM_001365951.3(KIF1B):c.4948A>C (p.Thr1650Pro) rs1569930387 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.1819G>A (p.Val607Ile) rs1056495059 0.00001
NM_001365951.3(KIF1B):c.2692G>A (p.Gly898Ser) rs773982003 0.00001
NM_001365951.3(KIF1B):c.3227C>T (p.Pro1076Leu) rs924994950 0.00001
NM_001365951.3(KIF1B):c.3827C>T (p.Ala1276Val) rs747752091 0.00001
NM_001365951.3(KIF1B):c.3886G>C (p.Val1296Leu) rs745760971 0.00001
NM_001365951.3(KIF1B):c.392A>G (p.Asn131Ser) rs776533873 0.00001
NM_001365951.3(KIF1B):c.4195G>A (p.Val1399Ile) rs770566165 0.00001
NM_001365951.3(KIF1B):c.4297C>A (p.Pro1433Thr) rs757899517 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.5173G>A (p.Val1725Ile) rs753477704 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_001365951.3(KIF1B):c.1177G>T (p.Asp393Tyr)
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.2115+5956T>G
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+6427T>G
NM_001365951.3(KIF1B):c.2115+6523G>A
NM_001365951.3(KIF1B):c.2115+6944A>T
NM_001365951.3(KIF1B):c.2115+6945_2115+6947del
NM_001365951.3(KIF1B):c.2115+7012A>G
NM_001365951.3(KIF1B):c.2115+7171G>T
NM_001365951.3(KIF1B):c.2115+7229G>A
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) rs748284088
NM_001365951.3(KIF1B):c.3541G>A (p.Val1181Met)
NM_001365951.3(KIF1B):c.3798-3T>C rs1652638541
NM_001365951.3(KIF1B):c.4056G>A (p.Arg1352=)
NM_001365951.3(KIF1B):c.418T>A (p.Tyr140Asn)
NM_001365951.3(KIF1B):c.4366+4A>T rs761773305
NM_001365951.3(KIF1B):c.4417C>T (p.Arg1473Trp) rs760365164
NM_001365951.3(KIF1B):c.4718G>A (p.Ser1573Asn)
NM_001365951.3(KIF1B):c.4819T>C (p.Cys1607Arg)
NM_001365951.3(KIF1B):c.5047A>G (p.Lys1683Glu) rs1369672720
NM_001365951.3(KIF1B):c.5208C>A (p.Asp1736Glu) rs749483779
NM_001365951.3(KIF1B):c.526C>A (p.Pro176Thr) rs781211572
NM_001365951.3(KIF1B):c.694A>G (p.Asn232Asp)

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