ClinVar Miner

List of variants reported as uncertain significance for peripheral neuropathy by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (524):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 155
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HGVS dbSNP gnomAD frequency
NM_021625.5(TRPV4):c.956C>T (p.Ser319Leu) rs377518118 0.00016
NM_000182.5(HADHA):c.1637A>G (p.Tyr546Cys) rs370170143 0.00007
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345 0.00004
NM_002857.4(PEX19):c.215A>G (p.Gln72Arg) rs543271441 0.00004
NM_003560.4(PLA2G6):c.395G>A (p.Arg132His) rs763734863 0.00004
NM_001374736.1(DST):c.15898G>A (p.Asp5300Asn) rs200661658 0.00003
NM_007289.4(MME):c.1154G>A (p.Arg385Gln) rs200791566 0.00003
NM_014874.4(MFN2):c.1181G>A (p.Arg394His) rs538243357 0.00003
NM_021625.5(TRPV4):c.2236C>T (p.Arg746Cys) rs375189134 0.00003
NM_205836.3(FBXO38):c.1796A>C (p.Glu599Ala) rs781374639 0.00003
NM_014874.4(MFN2):c.445G>A (p.Glu149Lys) rs754016178 0.00002
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln) rs765822392 0.00002
NM_020631.6(PLEKHG5):c.2609C>T (p.Pro870Leu) rs772693344 0.00002
NM_025137.4(SPG11):c.6738T>G (p.Ile2246Met) rs776998679 0.00002
NM_001005373.4(LRSAM1):c.284C>T (p.Ala95Val) rs570248730 0.00001
NM_001365951.3(KIF1B):c.2830G>A (p.Gly944Ser) rs755314640 0.00001
NM_001540.5(HSPB1):c.121G>A (p.Glu41Lys) rs1393404971 0.00001
NM_003680.4(YARS1):c.502G>A (p.Gly168Arg) rs1473184666 0.00001
NM_005957.5(MTHFR):c.973C>T (p.Arg325Cys) rs371085894 0.00001
NM_007289.4(MME):c.389T>C (p.Ile130Thr) rs200313798 0.00001
NM_014845.6(FIG4):c.2695C>T (p.Arg899Ter) rs750069994 0.00001
NM_014874.4(MFN2):c.1189C>T (p.Arg397Trp) rs758948968 0.00001
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln) rs543247171 0.00001
NM_018706.7(DHTKD1):c.677G>A (p.Arg226Lys) rs775851398 0.00001
NM_020247.5(COQ8A):c.1049A>G (p.Lys350Arg) rs548317868 0.00001
NM_000081.4(LYST):c.5290G>A (p.Gly1764Ser)
NM_000081.4(LYST):c.7556A>T (p.Tyr2519Phe)
NM_000166.6(GJB1):c.219T>A (p.His73Gln)
NM_000166.6(GJB1):c.256A>G (p.Thr86Ala) rs1602349014
NM_000166.6(GJB1):c.5A>G (p.Asn2Ser)
NM_000182.5(HADHA):c.173A>G (p.Asn58Ser)
NM_000284.4(PDHA1):c.1088A>C (p.Glu363Ala)
NM_000284.4(PDHA1):c.1143T>G (p.Asn381Lys)
NM_000284.4(PDHA1):c.769A>G (p.Met257Val)
NM_000286.3(PEX12):c.106_107delinsAT (p.Ala36Ile)
NM_000287.4(PEX6):c.1183G>A (p.Gly395Arg)
NM_000287.4(PEX6):c.1774G>C (p.Glu592Gln) rs375288192
NM_000287.4(PEX6):c.2125G>A (p.Gly709Arg) rs1254717257
NM_000287.4(PEX6):c.2273C>A (p.Ala758Asp)
NM_000287.4(PEX6):c.2705T>C (p.Leu902Pro)
NM_000304.4(PMP22):c.102C>A (p.His34Gln) rs779654897
NM_000304.4(PMP22):c.341C>T (p.Ala114Val) rs1217342392
NM_000344.4(SMN1):c.841A>G (p.Arg281Gly)
NM_000487.6(ARSA):c.1163T>A (p.Val388Asp)
NM_000487.6(ARSA):c.1211-3C>T
NM_000487.6(ARSA):c.217C>T (p.Pro73Ser)
NM_000487.6(ARSA):c.419A>T (p.His140Leu) rs2082687894
NM_000487.6(ARSA):c.545C>A (p.Pro182Gln)
NM_000487.6(ARSA):c.661T>A (p.Phe221Ile)
NM_000520.6(HEXA):c.1121A>G (p.Gln374Arg)
NM_000520.6(HEXA):c.1329A>C (p.Glu443Asp)
NM_000520.6(HEXA):c.1412C>G (p.Pro471Arg)
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile) rs1057519462
NM_000520.6(HEXA):c.996C>A (p.Asn332Lys)
NM_000521.4(HEXB):c.1049A>T (p.His350Leu) rs2112175313
NM_000521.4(HEXB):c.1489A>C (p.Asn497His)
NM_000521.4(HEXB):c.197C>T (p.Thr66Ile)
NM_000521.4(HEXB):c.766A>C (p.Asn256His) rs2112156485
NM_000530.8(MPZ):c.262T>A (p.Tyr88Asn)
NM_000530.8(MPZ):c.597G>C (p.Lys199Asn)
NM_000530.8(MPZ):c.736G>A (p.Asp246Asn) rs1571816993
NM_000543.5(SMPD1):c.1487-4G>A
NM_000611.6(CD59):c.286_295del (p.Phe96fs)
NM_000701.8(ATP1A1):c.1645G>A (p.Gly549Arg) rs2101052251
NM_000701.8(ATP1A1):c.3007G>A (p.Glu1003Lys)
NM_001003800.2(BICD2):c.2327A>C (p.Lys776Thr) rs2131496327
NM_001005361.3(DNM2):c.1712A>G (p.Lys571Arg)
NM_001005361.3(DNM2):c.70G>A (p.Gly24Ser)
NM_001005361.3(DNM2):c.953G>A (p.Arg318Gln) rs879254323
NM_001005373.4(LRSAM1):c.528+6T>C
NM_001122955.4(BSCL2):c.1168GAG[2] (p.Glu392del) rs769661232
NM_001126121.2(SLC25A19):c.748G>A (p.Glu250Lys)
NM_001127649.3(PEX26):c.187C>A (p.Gln63Lys)
NM_001130823.3(DNMT1):c.292G>T (p.Ala98Ser)
NM_001130823.3(DNMT1):c.3655A>G (p.Thr1219Ala)
NM_001201402.2(GALC):c.62T>C (p.Ile21Thr)
NM_001244008.2(KIF1A):c.4585G>A (p.Ala1529Thr) rs572923181
NM_001303256.3(MORC2):c.1094A>T (p.Glu365Val)
NM_001358921.2(COQ2):c.797C>G (p.Ser266Ter)
NM_001365951.3(KIF1B):c.3892A>G (p.Ile1298Val) rs529804940
NM_001370298.3(FGD4):c.1685AAG[1] (p.Glu563del)
NM_001376.5(DYNC1H1):c.11531C>T (p.Pro3844Leu)
NM_001376.5(DYNC1H1):c.13022G>C (p.Ser4341Thr)
NM_001376.5(DYNC1H1):c.1963G>A (p.Asp655Asn)
NM_001376.5(DYNC1H1):c.2989C>T (p.Pro997Ser)
NM_001376.5(DYNC1H1):c.3460G>A (p.Glu1154Lys)
NM_002180.3(IGHMBP2):c.1822G>A (p.Val608Met) rs573382473
NM_002180.3(IGHMBP2):c.2636C>T (p.Thr879Met) rs17612126
NM_002529.4(NTRK1):c.2141G>A (p.Gly714Asp) rs944740609
NM_002541.4(OGDH):c.44C>T (p.Thr15Met)
NM_002618.4(PEX13):c.928G>C (p.Val310Leu)
NM_002618.4(PEX13):c.996A>C (p.Lys332Asn)
NM_002693.3(POLG):c.386C>T (p.Pro129Leu)
NM_002693.3(POLG):c.449A>T (p.Tyr150Phe)
NM_002857.4(PEX19):c.469A>G (p.Met157Val)
NM_002857.4(PEX19):c.485T>C (p.Met162Thr)
NM_003560.4(PLA2G6):c.1157C>G (p.Pro386Arg) rs2145753418
NM_003560.4(PLA2G6):c.1676C>T (p.Pro559Leu) rs2145711085
NM_003560.4(PLA2G6):c.2030G>T (p.Arg677Leu) rs369038599
NM_003560.4(PLA2G6):c.221T>C (p.Leu74Pro)
NM_003560.4(PLA2G6):c.370C>T (p.His124Tyr)
NM_003560.4(PLA2G6):c.668C>T (p.Pro223Leu) rs776753796
NM_003560.4(PLA2G6):c.967G>A (p.Val323Met)
NM_003630.3(PEX3):c.190A>C (p.Thr64Pro)
NM_003632.3(CNTNAP1):c.1228G>A (p.Val410Met)
NM_003680.4(YARS1):c.793A>G (p.Lys265Glu)
NM_004082.5(DCTN1):c.2969G>T (p.Arg990Leu)
NM_004082.5(DCTN1):c.3568G>T (p.Ala1190Ser)
NM_004184.4(WARS1):c.1248C>G (p.Ile416Met)
NM_004813.4(PEX16):c.830G>T (p.Arg277Leu)
NM_005866.4(SIGMAR1):c.391G>A (p.Gly131Ser)
NM_005866.4(SIGMAR1):c.446G>A (p.Gly149Glu)
NM_005908.4(MANBA):c.1115T>C (p.Leu372Ser)
NM_005908.4(MANBA):c.2282G>C (p.Cys761Ser) rs538584064
NM_005957.5(MTHFR):c.1442C>A (p.Thr481Asn)
NM_005957.5(MTHFR):c.358T>C (p.Cys120Arg)
NM_005957.5(MTHFR):c.362G>T (p.Gly121Val)
NM_005957.5(MTHFR):c.708C>G (p.Phe236Leu)
NM_005957.5(MTHFR):c.755T>G (p.Ile252Ser)
NM_006096.4(NDRG1):c.943+5G>A rs778982295
NM_006158.5(NEFL):c.1412C>A (p.Pro471His) rs756696405
NM_006158.5(NEFL):c.311T>G (p.Phe104Cys)
NM_007289.4(MME):c.1229G>A (p.Arg410His)
NM_007289.4(MME):c.917C>T (p.Ala306Val) rs1407756399
NM_012073.5(CCT5):c.142A>G (p.Met48Val)
NM_014629.4(ARHGEF10):c.2711C>G (p.Thr904Ser)
NM_014845.6(FIG4):c.504C>G (p.Ser168Arg)
NM_014845.6(FIG4):c.649G>T (p.Val217Leu)
NM_014874.4(MFN2):c.2096T>C (p.Leu699Pro)
NM_014874.4(MFN2):c.321T>G (p.Asn107Lys) rs1638897505
NM_014874.4(MFN2):c.462GAG[1] (p.Arg155del)
NM_015046.7(SETX):c.7516G>A (p.Ala2506Thr) rs1160553456
NM_015271.5(TRIM2):c.738G>C (p.Lys246Asn)
NM_015459.5(ATL3):c.1114G>A (p.Gly372Arg)
NM_015506.3(MMACHC):c.848del (p.Ter283TyrextTer?) rs1553163024
NM_016035.5(COQ4):c.400A>G (p.Asn134Asp)
NM_016138.5(COQ7):c.218T>A (p.Val73Asp)
NM_016138.5(COQ7):c.367+5G>A
NM_016156.6(MTMR2):c.1357T>C (p.Trp453Arg)
NM_018706.7(DHTKD1):c.1391A>G (p.Glu464Gly) rs576359665
NM_018972.4(GDAP1):c.827T>G (p.Leu276Trp)
NM_020631.6(PLEKHG5):c.2839G>A (p.Gly947Arg)
NM_020631.6(PLEKHG5):c.352G>A (p.Val118Met)
NM_022041.4(GAN):c.156C>A (p.Ser52Arg)
NM_022041.4(GAN):c.1690dup (p.Asp564fs)
NM_022489.4(INF2):c.365A>G (p.Gln122Arg)
NM_024577.4(SH3TC2):c.2627C>A (p.Ala876Glu)
NM_024577.4(SH3TC2):c.3692_3693del (p.Thr1231fs)
NM_025137.4(SPG11):c.4804G>A (p.Val1602Met) rs754536969
NM_030962.4(SBF2):c.776C>T (p.Pro259Leu)
NM_033305.3(VPS13A):c.9067_9069delinsTGG (p.Gly3023Trp)
NM_133259.4(LRPPRC):c.1550C>G (p.Ala517Gly)
NM_133259.4(LRPPRC):c.40G>A (p.Ala14Thr)
NM_181882.3(PRX):c.3197T>G (p.Phe1066Cys)
NM_198252.3(GSN):c.-9-2091_-9-2064del rs764841269

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