ClinVar Miner

List of variants studied for hereditary peripheral neuropathy by Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo

Included ClinVar conditions (479):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00011
NM_005548.3(KARS1):c.1256C>T (p.Thr419Ile) rs773192982 0.00009
NM_005548.3(KARS1):c.1520G>A (p.Arg507Gln) rs752076127 0.00002
NM_006736.6(DNAJB2):c.352+1G>A rs756614404 0.00002
NM_000166.6(GJB1):c.320G>A (p.Arg107Gln) rs1383588318 0.00001
NM_000166.6(GJB1):c.415G>A (p.Val139Met) rs104894812 0.00001
NM_000263.4(NAGLU):c.530G>A (p.Arg177Gln) rs1323850779 0.00001
NM_003560.4(PLA2G6):c.1021G>A (p.Ala341Thr) rs769000561 0.00001
NM_006308.3(HSPB3):c.279G>A (p.Trp93Ter) rs142626276 0.00001
NM_007289.4(MME):c.516A>T (p.Glu172Asp) rs201333758 0.00001
NM_000052.7(ATP7A):c.4420C>G (p.Leu1474Val) rs2149114100
NM_000117.3(EMD):c.82+1G>A rs1557182214
NM_000166.6(GJB1):c.386G>A (p.Gly129Glu) rs1602349280
NM_000701.8(ATP1A1):c.1645G>A (p.Gly549Arg) rs2101052251
NM_001005361.3(DNM2):c.1051G>A (p.Val351Met) rs876661176
NM_001005361.3(DNM2):c.1070C>T (p.Ser357Phe) rs1064793101
NM_001005373.4(LRSAM1):c.935_942del (p.Glu312fs) rs1835470775
NM_001005373.4(LRSAM1):c.944G>T (p.Arg315Leu) rs764321843
NM_001244008.2(KIF1A):c.947G>A (p.Arg316Gln) rs749718096
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) rs864309503
NM_001540.5(HSPB1):c.544C>G (p.Pro182Ala) rs104894020
NM_001605.3(AARS1):c.986G>A (p.Arg329His) rs267606621
NM_002180.3(IGHMBP2):c.2796del (p.Cys932fs) rs2154009273
NM_004082.5(DCTN1):c.857C>T (p.Ala286Val) rs896989123
NM_004208.4(AIFM1):c.776C>G (p.Ala259Gly) rs2124656989
NM_004984.4(KIF5A):c.2987A>G (p.Asp996Gly) rs2140172189
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del) rs786205207
NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp) rs119103265
NM_014874.4(MFN2):c.2213C>T (p.Ala738Val) rs1569889919
NM_014874.4(MFN2):c.2251C>T (p.Gln751Ter) rs1557539119
NM_014874.4(MFN2):c.280C>T (p.Arg94Trp) rs119103263
NM_014874.4(MFN2):c.281G>A (p.Arg94Gln) rs28940291
NM_014874.4(MFN2):c.310C>T (p.Arg104Trp) rs119103268
NM_014874.4(MFN2):c.314C>T (p.Thr105Met) rs863224069
NM_014874.4(MFN2):c.658G>A (p.Ala220Thr) rs1639045345
NM_014874.4(MFN2):c.746C>G (p.Ser249Cys) rs794729198
NM_014874.4(MFN2):c.839G>A (p.Arg280His) rs28940294
NM_015046.7(SETX):c.1156A>G (p.Met386Val) rs2131463372
NM_018972.4(GDAP1):c.674GAA[1] (p.Arg226del) rs1586806238
NM_021625.5(TRPV4):c.694C>T (p.Arg232Cys) rs387906904
NM_021815.5(SLC5A7):c.1113+2T>A rs2104379614

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