ClinVar Miner

List of variants in gene MTMR2 reported as uncertain significance for Charcot-Marie-Tooth disease type 4

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Gene type:
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Total variants: 188
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HGVS dbSNP gnomAD frequency
NM_016156.6(MTMR2):c.*1888del rs775823662 0.00029
NM_016156.6(MTMR2):c.1897G>A (p.Ala633Thr) rs532885622 0.00017
NM_016156.6(MTMR2):c.16A>T (p.Ser6Cys) rs377006678 0.00014
NM_016156.6(MTMR2):c.604C>G (p.Pro202Ala) rs186380748 0.00014
NM_016156.6(MTMR2):c.1741A>G (p.Ile581Val) rs149476960 0.00010
NM_016156.6(MTMR2):c.1843C>G (p.Gln615Glu) rs886048770 0.00010
NM_016156.6(MTMR2):c.263-3C>T rs553551578 0.00009
NM_016156.6(MTMR2):c.1861C>T (p.Arg621Ter) rs753364428 0.00007
NM_016156.6(MTMR2):c.810A>C (p.Leu270Phe) rs587779385 0.00007
NM_016156.6(MTMR2):c.894A>T (p.Glu298Asp) rs200898934 0.00007
NM_016156.6(MTMR2):c.1402G>C (p.Asp468His) rs142460913 0.00006
NM_016156.6(MTMR2):c.14C>G (p.Ser5Trp) rs778430688 0.00006
NM_016156.6(MTMR2):c.629A>G (p.Asp210Gly) rs753316100 0.00005
NM_016156.6(MTMR2):c.80G>C (p.Ser27Thr) rs879253940 0.00005
NM_016156.6(MTMR2):c.262+4C>T rs760282236 0.00004
NM_016156.6(MTMR2):c.35C>T (p.Ser12Phe) rs755619139 0.00004
NM_016156.6(MTMR2):c.1190C>G (p.Ala397Gly) rs145714734 0.00003
NM_016156.6(MTMR2):c.1386A>G (p.Leu462=) rs139369561 0.00003
NM_016156.6(MTMR2):c.1523T>C (p.Ile508Thr) rs769280444 0.00003
NM_016156.6(MTMR2):c.1851G>C (p.Glu617Asp) rs369804894 0.00003
NM_016156.6(MTMR2):c.185G>A (p.Arg62Lys) rs528638298 0.00003
NM_016156.6(MTMR2):c.230C>T (p.Pro77Leu) rs377327553 0.00003
NM_016156.6(MTMR2):c.*2357T>C rs886048762 0.00002
NM_016156.6(MTMR2):c.1101G>C (p.Lys367Asn) rs747178197 0.00002
NM_016156.6(MTMR2):c.11G>C (p.Ser4Thr) rs771823531 0.00002
NM_016156.6(MTMR2):c.1345G>A (p.Val449Met) rs776520645 0.00002
NM_016156.6(MTMR2):c.139T>C (p.Ser47Pro) rs372095826 0.00002
NM_016156.6(MTMR2):c.1450A>G (p.Ile484Val) rs886048771 0.00002
NM_016156.6(MTMR2):c.1832T>C (p.Val611Ala) rs1271455669 0.00002
NM_016156.6(MTMR2):c.1870_1878dup (p.Ser624_Ser626dup) rs748069614 0.00002
NM_016156.6(MTMR2):c.22G>A (p.Glu8Lys) rs756912172 0.00002
NM_016156.6(MTMR2):c.350T>C (p.Met117Thr) rs752402777 0.00002
NM_016156.6(MTMR2):c.356G>A (p.Arg119Gln) rs759086106 0.00002
NM_016156.6(MTMR2):c.403G>A (p.Val135Ile) rs951220118 0.00002
NM_016156.6(MTMR2):c.485G>A (p.Arg162Gln) rs756723587 0.00002
NM_016156.6(MTMR2):c.759A>C (p.Glu253Asp) rs753939570 0.00002
NM_016156.6(MTMR2):c.841A>G (p.Ile281Val) rs887196115 0.00002
NM_016156.6(MTMR2):c.1091G>A (p.Arg364Gln) rs768976966 0.00001
NM_016156.6(MTMR2):c.1096C>G (p.Leu366Val) rs925169921 0.00001
NM_016156.6(MTMR2):c.1121T>C (p.Ile374Thr) rs114883605 0.00001
NM_016156.6(MTMR2):c.1312T>C (p.Tyr438His) rs1360581554 0.00001
NM_016156.6(MTMR2):c.1319G>A (p.Arg440Gln) rs1383802560 0.00001
NM_016156.6(MTMR2):c.1328G>A (p.Arg443Gln) rs1590978311 0.00001
NM_016156.6(MTMR2):c.146C>G (p.Ser49Cys) rs1170327910 0.00001
NM_016156.6(MTMR2):c.1489G>A (p.Ala497Thr) rs752626893 0.00001
NM_016156.6(MTMR2):c.1511T>C (p.Phe504Ser) rs1221811087 0.00001
NM_016156.6(MTMR2):c.1594-9T>G rs774704606 0.00001
NM_016156.6(MTMR2):c.1630A>G (p.Ile544Val) rs781368440 0.00001
NM_016156.6(MTMR2):c.1661C>T (p.Pro554Leu) rs750110066 0.00001
NM_016156.6(MTMR2):c.1770G>A (p.Gln590=) rs778532655 0.00001
NM_016156.6(MTMR2):c.1900C>T (p.Gln634Ter) rs923973985 0.00001
NM_016156.6(MTMR2):c.1910C>T (p.Thr637Ile) rs1555056657 0.00001
NM_016156.6(MTMR2):c.197A>G (p.Glu66Gly) rs756405288 0.00001
NM_016156.6(MTMR2):c.248A>C (p.Asn83Thr) rs757664332 0.00001
NM_016156.6(MTMR2):c.269A>T (p.Asp90Val) rs147341114 0.00001
NM_016156.6(MTMR2):c.301G>A (p.Val101Ile) rs1340382592 0.00001
NM_016156.6(MTMR2):c.309A>T (p.Gly103=) rs114274243 0.00001
NM_016156.6(MTMR2):c.327T>G (p.Asn109Lys) rs1322357085 0.00001
NM_016156.6(MTMR2):c.34T>A (p.Ser12Thr) rs1867035083 0.00001
NM_016156.6(MTMR2):c.357+4A>C rs863224750 0.00001
NM_016156.6(MTMR2):c.458C>G (p.Thr153Ser) rs1864437012 0.00001
NM_016156.6(MTMR2):c.460G>A (p.Val154Met) rs1464362553 0.00001
NM_016156.6(MTMR2):c.479A>C (p.Asn160Thr) rs1286568485 0.00001
NM_016156.6(MTMR2):c.494A>C (p.His165Pro) rs1360315392 0.00001
NM_016156.6(MTMR2):c.52C>T (p.Arg18Trp) rs1177699275 0.00001
NM_016156.6(MTMR2):c.572C>T (p.Pro191Leu) rs1258314907 0.00001
NM_016156.6(MTMR2):c.626A>G (p.Tyr209Cys) rs967619161 0.00001
NM_016156.6(MTMR2):c.77C>T (p.Ser26Phe) rs1295900396 0.00001
NM_016156.6(MTMR2):c.791G>A (p.Arg264Lys) rs1590984978 0.00001
NM_016156.6(MTMR2):c.797G>A (p.Arg266His) rs775237206 0.00001
NM_016156.6(MTMR2):c.805-9C>G rs767328220 0.00001
NM_016156.6(MTMR2):c.829A>C (p.Ser277Arg) rs779257949 0.00001
NM_016156.6(MTMR2):c.848G>A (p.Arg283Gln) rs374629187 0.00001
NM_016156.6(MTMR2):c.884G>A (p.Arg295Gln) rs777854770 0.00001
NM_016156.6(MTMR2):c.92C>T (p.Ser31Phe) rs748872681 0.00001
NC_000011.9:g.(?_95568444)_(95568625_?)dup
NC_000011.9:g.(?_95568454)_(95657118_?)dup
NC_000011.9:g.(?_95574771)_(95598850_?)dup
NM_016156.6(MTMR2):c.*1100_*1103dup rs886048767
NM_016156.6(MTMR2):c.*1343_*1344del rs886048765
NM_016156.6(MTMR2):c.*345CT[1] rs762396029
NM_016156.6(MTMR2):c.10A>G (p.Ser4Gly) rs1867038226
NM_016156.6(MTMR2):c.1118A>G (p.Asn373Ser) rs778906960
NM_016156.6(MTMR2):c.1140G>C (p.Leu380Phe) rs2135433928
NM_016156.6(MTMR2):c.1175T>C (p.Ile392Thr) rs1555060014
NM_016156.6(MTMR2):c.1184T>C (p.Ile395Thr) rs774525225
NM_016156.6(MTMR2):c.1220A>G (p.Glu407Gly) rs1863726953
NM_016156.6(MTMR2):c.1221G>C (p.Glu407Asp)
NM_016156.6(MTMR2):c.131T>C (p.Val44Ala)
NM_016156.6(MTMR2):c.1349A>T (p.Glu450Val)
NM_016156.6(MTMR2):c.1351A>G (p.Lys451Glu)
NM_016156.6(MTMR2):c.1363A>C (p.Ser455Arg) rs1590978234
NM_016156.6(MTMR2):c.1364G>A (p.Ser455Asn) rs1565348037
NM_016156.6(MTMR2):c.1387-3C>T rs2135417340
NM_016156.6(MTMR2):c.1411C>T (p.His471Tyr) rs1193305699
NM_016156.6(MTMR2):c.1457G>C (p.Cys486Ser) rs765313279
NM_016156.6(MTMR2):c.1462T>C (p.Trp488Arg)
NM_016156.6(MTMR2):c.1531C>T (p.His511Tyr) rs761100126
NM_016156.6(MTMR2):c.1552G>A (p.Gly518Arg) rs1014132718
NM_016156.6(MTMR2):c.155C>T (p.Thr52Ile) rs2135548901
NM_016156.6(MTMR2):c.1562T>A (p.Leu521His) rs1565344022
NM_016156.6(MTMR2):c.157T>A (p.Ser53Thr) rs2135548895
NM_016156.6(MTMR2):c.1637G>A (p.Ser546Asn) rs376530848
NM_016156.6(MTMR2):c.1637G>C (p.Ser546Thr) rs376530848
NM_016156.6(MTMR2):c.163G>A (p.Asp55Asn)
NM_016156.6(MTMR2):c.1643T>A (p.Leu548Gln) rs2135402121
NM_016156.6(MTMR2):c.1648G>T (p.Asp550Tyr) rs2135402110
NM_016156.6(MTMR2):c.1651T>C (p.Phe551Leu) rs1863277955
NM_016156.6(MTMR2):c.1667A>G (p.Tyr556Cys)
NM_016156.6(MTMR2):c.1682A>C (p.Asn561Thr)
NM_016156.6(MTMR2):c.1721A>G (p.Glu574Gly) rs771548803
NM_016156.6(MTMR2):c.1723C>G (p.Leu575Val) rs1863269909
NM_016156.6(MTMR2):c.1756C>G (p.Arg586Gly)
NM_016156.6(MTMR2):c.1756C>T (p.Arg586Trp)
NM_016156.6(MTMR2):c.1763A>C (p.Lys588Thr) rs1863268067
NM_016156.6(MTMR2):c.1770+3A>T
NM_016156.6(MTMR2):c.1770+4T>C rs1565342479
NM_016156.6(MTMR2):c.1774C>T (p.Pro592Ser) rs749010549
NM_016156.6(MTMR2):c.1807A>G (p.Lys603Glu)
NM_016156.6(MTMR2):c.1810C>T (p.Arg604Ter) rs138746296
NM_016156.6(MTMR2):c.1826A>G (p.Lys609Arg)
NM_016156.6(MTMR2):c.1829_1830dup (p.Val611fs)
NM_016156.6(MTMR2):c.1830dup (p.Val611fs)
NM_016156.6(MTMR2):c.1843C>T (p.Gln615Ter) rs886048770
NM_016156.6(MTMR2):c.1847G>A (p.Arg616Lys) rs2135399090
NM_016156.6(MTMR2):c.184_186del (p.Arg62del) rs141498429
NM_016156.6(MTMR2):c.1851_1852del (p.Glu617fs) rs769866540
NM_016156.6(MTMR2):c.1852A>C (p.Ile618Leu) rs1392067749
NM_016156.6(MTMR2):c.1856C>G (p.Ser619Cys)
NM_016156.6(MTMR2):c.186+19_186+20delinsTA
NM_016156.6(MTMR2):c.1862G>C (p.Arg621Pro) rs371925152
NM_016156.6(MTMR2):c.1867A>G (p.Thr623Ala) rs770755992
NM_016156.6(MTMR2):c.186G>T (p.Arg62Ser) rs2135548808
NM_016156.6(MTMR2):c.1876T>A (p.Ser626Thr)
NM_016156.6(MTMR2):c.1879G>A (p.Glu627Lys) rs1863216623
NM_016156.6(MTMR2):c.1884A>C (p.Arg628Ser) rs747684213
NM_016156.6(MTMR2):c.1916del (p.Val639fs) rs779740723
NM_016156.6(MTMR2):c.20_21delinsTT (p.Cys7Phe) rs1867037031
NM_016156.6(MTMR2):c.223G>C (p.Glu75Gln) rs1237939737
NM_016156.6(MTMR2):c.22G>C (p.Glu8Gln)
NM_016156.6(MTMR2):c.232T>A (p.Leu78Met) rs750344055
NM_016156.6(MTMR2):c.24G>C (p.Glu8Asp) rs2135659936
NM_016156.6(MTMR2):c.262+5G>A rs1565361115
NM_016156.6(MTMR2):c.282A>G (p.Ile94Met) rs769020850
NM_016156.6(MTMR2):c.305G>A (p.Arg102Gln) rs1864454618
NM_016156.6(MTMR2):c.308G>A (p.Gly103Glu) rs1590997541
NM_016156.6(MTMR2):c.313C>G (p.Leu105Val) rs2135475998
NM_016156.6(MTMR2):c.349A>G (p.Met117Val) rs2135475834
NM_016156.6(MTMR2):c.352G>A (p.Glu118Lys) rs1864451374
NM_016156.6(MTMR2):c.355C>G (p.Arg119Gly) rs142774695
NM_016156.6(MTMR2):c.355C>T (p.Arg119Trp)
NM_016156.6(MTMR2):c.370_372del (p.Val124del) rs2135475047
NM_016156.6(MTMR2):c.404T>C (p.Val135Ala) rs1864439728
NM_016156.6(MTMR2):c.408A>C (p.Glu136Asp) rs1555065024
NM_016156.6(MTMR2):c.431G>A (p.Arg144Gln) rs1555065007
NM_016156.6(MTMR2):c.432_434del (p.Gly145del) rs1864437836
NM_016156.6(MTMR2):c.444T>G (p.Ser148=) rs1555065002
NM_016156.6(MTMR2):c.469-3T>C rs191224855
NM_016156.6(MTMR2):c.506G>A (p.Gly169Glu) rs1864296648
NM_016156.6(MTMR2):c.508C>T (p.Arg170Trp) rs1419183415
NM_016156.6(MTMR2):c.523A>G (p.Ile175Val) rs1864295304
NM_016156.6(MTMR2):c.533A>G (p.Asn178Ser) rs1055618502
NM_016156.6(MTMR2):c.553C>T (p.Pro185Ser) rs577896427
NM_016156.6(MTMR2):c.59C>T (p.Pro20Leu) rs952672162
NM_016156.6(MTMR2):c.62G>A (p.Ser21Asn)
NM_016156.6(MTMR2):c.637T>G (p.Leu213Val)
NM_016156.6(MTMR2):c.679A>G (p.Ile227Val)
NM_016156.6(MTMR2):c.67G>T (p.Asp23Tyr) rs1225667280
NM_016156.6(MTMR2):c.698G>A (p.Arg233Gln) rs758629389
NM_016156.6(MTMR2):c.718T>A (p.Tyr240Asn) rs1863982879
NM_016156.6(MTMR2):c.721C>T (p.Pro241Ser) rs540766159
NM_016156.6(MTMR2):c.752C>T (p.Pro251Leu)
NM_016156.6(MTMR2):c.753TGA[1] (p.Asp252del) rs878855016
NM_016156.6(MTMR2):c.75G>C (p.Leu25Phe) rs1376231939
NM_016156.6(MTMR2):c.80+6C>T
NM_016156.6(MTMR2):c.800T>C (p.Ile267Thr) rs1863978401
NM_016156.6(MTMR2):c.812C>T (p.Ser271Leu)
NM_016156.6(MTMR2):c.871G>A (p.Val291Met)
NM_016156.6(MTMR2):c.884G>T (p.Arg295Leu) rs777854770
NM_016156.6(MTMR2):c.88A>G (p.Thr30Ala)
NM_016156.6(MTMR2):c.892G>A (p.Glu298Lys) rs2135439554
NM_016156.6(MTMR2):c.8A>G (p.Lys3Arg) rs3824874
NM_016156.6(MTMR2):c.907C>G (p.Leu303Val)
NM_016156.6(MTMR2):c.946A>T (p.Ile316Phe)
NM_016156.6(MTMR2):c.94C>T (p.His32Tyr) rs1591025020
NM_016156.6(MTMR2):c.959A>G (p.Asp320Gly)
NM_016156.6(MTMR2):c.965G>A (p.Arg322Gln) rs2135439249
NM_016156.6(MTMR2):c.971G>A (p.Ser324Asn) rs2135439231

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