ClinVar Miner

List of variants studied for hereditary peripheral neuropathy by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (479):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 149
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val) rs6339 0.03698
NM_015046.7(SETX):c.5275-43T>C rs144258500 0.00547
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His) rs80359890 0.00205
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs11394094 0.00159
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_000158.4(GBE1):c.691+2T>C rs192044702 0.00078
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn) rs141894081 0.00054
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_001370658.1(BTD):c.68A>G (p.His23Arg) rs146011150 0.00042
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893 0.00037
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr) rs121907984 0.00012
NM_000487.6(ARSA):c.869G>A (p.Arg290His) rs199476355 0.00011
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659 0.00009
NM_000143.4(FH):c.1127A>C (p.Gln376Pro) rs200796606 0.00005
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala) rs770427750 0.00004
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln) rs74315458 0.00004
NM_000530.8(MPZ):c.428C>T (p.Thr143Met) rs750724650 0.00004
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459 0.00003
NM_015046.7(SETX):c.2755G>C (p.Val919Leu) rs561190371 0.00003
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) rs199847983 0.00002
NM_002437.5(MPV17):c.376-9T>G rs368900406 0.00002
NM_002693.3(POLG):c.3493G>A (p.Ala1165Thr) rs778611629 0.00002
NM_006514.4(SCN10A):c.434T>C (p.Val145Ala) rs367751260 0.00002
NM_007289.4(MME):c.307C>T (p.Arg103Cys) rs765422392 0.00002
NM_015915.5(ATL1):c.688G>A (p.Asp230Asn) rs768367744 0.00002
NM_000052.7(ATP7A):c.4136C>T (p.Pro1379Leu) rs1557238990 0.00001
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro) rs1249991480 0.00001
NM_000487.6(ARSA):c.1156C>T (p.Arg386Cys) rs199476370 0.00001
NM_000530.8(MPZ):c.116A>C (p.His39Pro) rs371856018 0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter) rs72551314 0.00001
NM_001540.5(HSPB1):c.253G>T (p.Val85Phe) rs773758650 0.00001
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) rs137852647 0.00001
NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter) rs1135402725 0.00001
NM_003477.3(PDHX):c.742C>T (p.Gln248Ter) rs113309941 0.00001
NM_003560.4(PLA2G6):c.109C>T (p.Arg37Ter) rs200075782 0.00001
NM_003680.4(YARS1):c.1373C>T (p.Pro458Leu) rs762042274 0.00001
NM_006096.4(NDRG1):c.442C>T (p.Arg148Ter) rs119483085 0.00001
NM_006158.5(NEFL):c.1037C>A (p.Ala346Asp) rs368370291 0.00001
NM_006158.5(NEFL):c.298C>T (p.Arg100Cys) rs1803053166 0.00001
NM_014365.3(HSPB8):c.584G>A (p.Cys195Tyr) rs778223243 0.00001
NM_015046.7(SETX):c.6158A>G (p.Asn2053Ser) rs1429339677 0.00001
NM_033305.3(VPS13A):c.7489C>T (p.Arg2497Cys) rs762732340 0.00001
NM_182476.3(COQ6):c.37C>T (p.Arg13Cys) rs2056139131 0.00001
GRCh37/hg19 17p12(chr17:14095256-15477547)x1
GRCh37/hg19 17p12(chr17:14095256-15492591)x3
GRCh37/hg19 17p12(chr17:14096089-15492591)x3
NC_012920.1(MT-ATP6):m.8851T>C rs199476136
NC_012920.1(MT-ATP6):m.8993T>G rs199476133
NC_012920.1(MT-ATP6):m.9176T>C rs199476135
NC_012920.1(MT-ATP6):m.9185T>C rs199476138
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000153.4(GALC):c.1185dup (p.Arg396fs) rs1885268471
NM_000166.6(GJB1):c.467T>A (p.Leu156His) rs104894818
NM_000166.6(GJB1):c.514C>G (p.Pro172Ala) rs104894811
NM_000166.6(GJB1):c.619G>C (p.Ala207Pro) rs2147946898
NM_000166.6(GJB1):c.643C>T (p.Arg215Trp) rs879254099
NM_000166.6(GJB1):c.646G>A (p.Ala216Thr) rs2147947019
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe) rs1602348662
NM_000217.3(KCNA1):c.1048G>A (p.Glu350Lys)
NM_000217.3(KCNA1):c.460T>G (p.Trp154Gly)
NM_000217.3(KCNA1):c.847G>A (p.Glu283Lys) rs2137673633
NM_000217.3(KCNA1):c.863T>A (p.Leu288Gln)
NM_000284.4(PDHA1):c.1098C>A (p.Tyr366Ter) rs2063246734
NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys) rs863224147
NM_000284.4(PDHA1):c.679T>C (p.Tyr227His) rs2147180839
NM_000284.4(PDHA1):c.868C>T (p.His290Tyr) rs2147184502
NM_000284.4(PDHA1):c.949_952dup (p.Met318fs) rs2063232824
NM_000371.4(TTR):c.233T>A (p.Leu78His) rs121918069
NM_000466.3(PEX1):c.1039A>G (p.Lys347Glu)
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu) rs199476375
NM_000520.6(HEXA):c.1123del (p.Glu375fs) rs766138785
NM_000520.6(HEXA):c.749G>A (p.Gly250Asp) rs121907959
NM_000521.4(HEXB):c.1474T>A (p.Tyr492Asn)
NM_000521.4(HEXB):c.1478_1479del (p.Val493fs)
NM_000530.8(MPZ):c.127G>A (p.Gly43Ser) rs1670288209
NM_000530.8(MPZ):c.306del (p.Asp104fs) rs281865125
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000784.4(CYP27A1):c.1297dup (p.Arg433fs)
NM_000784.4(CYP27A1):c.1381C>T (p.Gln461Ter) rs771819245
NM_001003800.2(BICD2):c.2132T>C (p.Leu711Pro)
NM_001003800.2(BICD2):c.2200_2202del (p.Lys734del) rs1853349816
NM_001005373.4(LRSAM1):c.2120C>T (p.Pro707Leu) rs797044913
NM_001113491.2(SEPTIN9):c.316C>T (p.Arg106Trp) rs80338761
NM_001127173.3(CADM3):c.383del
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_001303256.3(MORC2):c.996G>T (p.Leu332Phe) rs769996010
NM_001349253.2(SCN11A):c.664C>A (p.Arg222Ser)
NM_001351132.2(PEX5):c.147+77_147+121del
NM_001365088.1(SLC12A6):c.1843G>C (p.Ala615Pro)
NM_001365536.1(SCN9A):c.2002del (p.Arg668fs)
NM_001365536.1(SCN9A):c.901A>T (p.Lys301Ter) rs1553495048
NM_001376.5(DYNC1H1):c.10031G>A (p.Arg3344Gln) rs397509412
NM_001376.5(DYNC1H1):c.11417C>T (p.Thr3806Ile) rs2048613478
NM_001376.5(DYNC1H1):c.3170A>G (p.Tyr1057Cys) rs2048038246
NM_001376.5(DYNC1H1):c.8216C>T (p.Pro2739Leu) rs866647743
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) rs387906738
NM_001376.5(DYNC1H1):c.9331A>G (p.Ser3111Gly) rs1595623556
NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp) rs29001571
NM_001540.5(HSPB1):c.510del (p.Lys171fs) rs1803069940
NM_002047.4(GARS1):c.647A>G (p.His216Arg) rs768987322
NM_002529.4(NTRK1):c.1860_1861insT (p.Pro621fs) rs80356676
NM_002693.3(POLG):c.1811C>T (p.Ala604Val) rs1433922299
NM_002693.3(POLG):c.2901_2907del (p.Met967fs)
NM_002693.3(POLG):c.3296G>A (p.Trp1099Ter) rs2055345819
NM_003104.6(SORD):c.50C>T (p.Pro17Leu)
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003560.4(PLA2G6):c.2070_2072del (p.Val691del) rs587784343
NM_003560.4(PLA2G6):c.319del (p.Leu107fs) rs776376695
NM_004208.4(AIFM1):c.322CAGAAA[1] (p.108QK[1]) rs2030881306
NM_005957.5(MTHFR):c.199C>T (p.Pro67Ser) rs1644422806
NM_005957.5(MTHFR):c.475+1G>T rs748397580
NM_006158.5(NEFL):c.259C>T (p.Arg87Cys)
NM_006415.4(SPTLC1):c.508A>G (p.Thr170Ala)
NM_006514.4(SCN10A):c.1534C>G (p.Arg512Gly) rs200714519
NM_006514.4(SCN10A):c.5254G>A (p.Asp1752Asn)
NM_007289.4(MME):c.467del (p.Pro156fs) rs749320057
NM_014874.4(MFN2):c.1160+1G>A rs1553144086
NM_014874.4(MFN2):c.494A>G (p.His165Arg) rs863224970
NM_014874.4(MFN2):c.695C>G (p.Thr232Ser) rs1569842764
NM_014874.4(MFN2):c.781G>C (p.Asp261His) rs2100832682
NM_014874.4(MFN2):c.827A>G (p.Gln276Arg) rs119103264
NM_015046.7(SETX):c.3057TGA[7] (p.Asp1024dup) rs572772837
NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr) rs372010149
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296
NM_015915.5(ATL1):c.1634C>T (p.Pro545Leu) rs2039590258
NM_018082.6(POLR3B):c.1757C>T (p.Ser586Phe)
NM_018972.4(GDAP1):c.182G>A (p.Ser61Asn) rs1808861763
NM_020247.5(COQ8A):c.1805C>G (p.Pro602Arg) rs61995958
NM_020312.4(COQ9):c.679_680del (p.Met227fs)
NM_021619.3(PRDM12):c.516G>C (p.Glu172Asp) rs755205487
NM_021625.5(TRPV4):c.710G>A (p.Arg237Gln) rs1289139464
NM_021815.5(SLC5A7):c.1503_1506del (p.Phe502fs)
NM_021815.5(SLC5A7):c.178+1G>C rs1677325509
NM_022489.4(INF2):c.2406C>G (p.His802Gln) rs1453244138
NM_024577.4(SH3TC2):c.1894_1897delinsAAA (p.Glu632fs) rs1580900758
NM_030962.4(SBF2):c.161G>A (p.Trp54Ter) rs1166873755
NM_030962.4(SBF2):c.2329del (p.Trp777fs)
NM_033305.3(VPS13A):c.4715del (p.Asn1572fs) rs2131432786
NM_205836.3(FBXO38):c.1313A>G (p.His438Arg) rs2113584557

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.