ClinVar Miner

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

Included ClinVar conditions (137):
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Gene type:
ClinVar version:
Total variants: 144
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HGVS dbSNP
NM_016156.5(MTMR2):c.*1100_*1103dup rs886048767
NM_016156.5(MTMR2):c.*1150C>T rs886048766
NM_016156.5(MTMR2):c.*133C>G rs367677499
NM_016156.5(MTMR2):c.*1343_*1344del rs886048765
NM_016156.5(MTMR2):c.*1425A>G rs886048764
NM_016156.5(MTMR2):c.*1822T>G rs562826516
NM_016156.5(MTMR2):c.*1826C>A rs145394232
NM_016156.5(MTMR2):c.*1888del rs775823662
NM_016156.5(MTMR2):c.*190G>A rs886048769
NM_016156.5(MTMR2):c.*2038C>G rs886048763
NM_016156.5(MTMR2):c.*207A>G rs185702937
NM_016156.5(MTMR2):c.*2357T>C rs886048762
NM_016156.5(MTMR2):c.*53G>A rs587779387
NM_016156.5(MTMR2):c.*660G>A rs886048768
NM_016156.5(MTMR2):c.*679A>C rs776788118
NM_016156.5(MTMR2):c.*910T>A rs555290971
NM_016156.5(MTMR2):c.-222G>C rs746848952
NM_016156.5(MTMR2):c.-82C>T rs886048773
NM_016156.5(MTMR2):c.1101G>C (p.Lys367Asn) rs747178197
NM_016156.5(MTMR2):c.1118A>G (p.Asn373Ser) rs778906960
NM_016156.5(MTMR2):c.1121T>C (p.Ile374Thr) rs114883605
NM_016156.5(MTMR2):c.1175T>C (p.Ile392Thr) rs1555060014
NM_016156.5(MTMR2):c.1190C>G (p.Ala397Gly) rs145714734
NM_016156.5(MTMR2):c.1328G>A (p.Arg443Gln) rs1590978311
NM_016156.5(MTMR2):c.1336G>A (p.Glu446Lys) rs146572467
NM_016156.5(MTMR2):c.1339G>A (p.Val447Ile) rs769693714
NM_016156.5(MTMR2):c.1343T>C (p.Leu448Pro) rs1590978277
NM_016156.5(MTMR2):c.1345G>A (p.Val449Met) rs776520645
NM_016156.5(MTMR2):c.1363A>C (p.Ser455Arg) rs1590978234
NM_016156.5(MTMR2):c.1364G>A (p.Ser455Asn) rs1565348037
NM_016156.5(MTMR2):c.1386A>G (p.Leu462=) rs139369561
NM_016156.5(MTMR2):c.1402G>C (p.Asp468His) rs142460913
NM_016156.5(MTMR2):c.1411C>T (p.His471Tyr) rs1193305699
NM_016156.5(MTMR2):c.1431G>A (p.Ser477=) rs200285624
NM_016156.5(MTMR2):c.1446A>G (p.Gln482=) rs376166939
NM_016156.5(MTMR2):c.1450A>G (p.Ile484Val) rs886048771
NM_016156.5(MTMR2):c.14C>G (p.Ser5Trp) rs778430688
NM_016156.5(MTMR2):c.1511T>C (p.Phe504Ser) rs1221811087
NM_016156.5(MTMR2):c.1523T>C (p.Ile508Thr) rs769280444
NM_016156.5(MTMR2):c.1551C>T (p.Phe517=) rs775961979
NM_016156.5(MTMR2):c.1552G>A (p.Gly518Arg) rs1014132718
NM_016156.5(MTMR2):c.1562T>A (p.Leu521His) rs1565344022
NM_016156.5(MTMR2):c.1593+1G>A rs1590970875
NM_016156.5(MTMR2):c.1594-9T>G rs774704606
NM_016156.5(MTMR2):c.1630A>G (p.Ile544Val) rs781368440
NM_016156.5(MTMR2):c.16A>T (p.Ser6Cys) rs377006678
NM_016156.5(MTMR2):c.1741A>G (p.Ile581Val) rs149476960
NM_016156.5(MTMR2):c.1749G>A (p.Trp583Ter) rs1590968942
NM_016156.5(MTMR2):c.1770+3A>G rs756909627
NM_016156.5(MTMR2):c.1770+4T>C rs1565342479
NM_016156.5(MTMR2):c.1770G>A (p.Gln590=) rs778532655
NM_016156.5(MTMR2):c.1805C>G (p.Ala602Gly) rs76784113
NM_016156.5(MTMR2):c.1843C>G (p.Gln615Glu) rs886048770
NM_016156.5(MTMR2):c.184_186del (p.Arg62del) rs141498429
NM_016156.5(MTMR2):c.1851G>C (p.Glu617Asp) rs369804894
NM_016156.5(MTMR2):c.1852A>C (p.Ile618Leu) rs1392067749
NM_016156.5(MTMR2):c.1855T>C (p.Ser619Pro) rs116750638
NM_016156.5(MTMR2):c.1861C>T (p.Arg621Ter) rs753364428
NM_016156.5(MTMR2):c.1900C>T (p.Gln634Ter) rs923973985
NM_016156.5(MTMR2):c.1910C>T (p.Thr637Ile) rs1555056657
NM_016156.5(MTMR2):c.1916del (p.Val639fs) rs779740723
NM_016156.5(MTMR2):c.197A>G (p.Glu66Gly) rs756405288
NM_016156.5(MTMR2):c.212C>T (p.Ala71Val) rs886048772
NM_016156.5(MTMR2):c.232T>A (p.Leu78Met) rs750344055
NM_016156.5(MTMR2):c.262+4C>T rs760282236
NM_016156.5(MTMR2):c.262+5G>A rs1565361115
NM_016156.5(MTMR2):c.301G>A (p.Val101Ile) rs1340382592
NM_016156.5(MTMR2):c.308G>A (p.Gly103Glu) rs1590997541
NM_016156.5(MTMR2):c.327T>G (p.Asn109Lys) rs1322357085
NM_016156.5(MTMR2):c.350T>C (p.Met117Thr) rs752402777
NM_016156.5(MTMR2):c.355C>G (p.Arg119Gly) rs142774695
NM_016156.5(MTMR2):c.356G>A (p.Arg119Gln) rs759086106
NM_016156.5(MTMR2):c.357+4A>C rs863224750
NM_016156.5(MTMR2):c.358-2A>T rs1590997186
NM_016156.5(MTMR2):c.35C>T (p.Ser12Phe) rs755619139
NM_016156.5(MTMR2):c.408A>C (p.Glu136Asp) rs1555065024
NM_016156.5(MTMR2):c.431G>A (p.Arg144Gln) rs1555065007
NM_016156.5(MTMR2):c.444T>G (p.Ser148=) rs1555065002
NM_016156.5(MTMR2):c.547G>T (p.Ala183Ser) rs142155860
NM_016156.5(MTMR2):c.56C>T (p.Pro19Leu) rs574213477
NM_016156.5(MTMR2):c.604C>G (p.Pro202Ala) rs186380748
NM_016156.5(MTMR2):c.626A>G (p.Tyr209Cys) rs967619161
NM_016156.5(MTMR2):c.655-8A>G rs768562214
NM_016156.5(MTMR2):c.791G>A (p.Arg264Lys) rs1590984978
NM_016156.5(MTMR2):c.80G>C (p.Ser27Thr) rs879253940
NM_016156.5(MTMR2):c.810A>C (p.Leu270Phe) rs587779385
NM_016156.5(MTMR2):c.829A>C (p.Ser277Arg) rs779257949
NM_016156.5(MTMR2):c.841_844del (p.Ile281fs) rs1590983942
NM_016156.5(MTMR2):c.847C>T (p.Arg283Trp) rs1590983932
NM_016156.5(MTMR2):c.894A>T (p.Glu298Asp) rs200898934
NM_016156.5(MTMR2):c.94C>T (p.His32Tyr) rs1591025020
NM_016156.6(MTMR2):c.*1036C>T
NM_016156.6(MTMR2):c.*1249G>A
NM_016156.6(MTMR2):c.*1271A>G
NM_016156.6(MTMR2):c.*1339T>G
NM_016156.6(MTMR2):c.*1656T>G
NM_016156.6(MTMR2):c.*17G>A
NM_016156.6(MTMR2):c.*2042G>C
NM_016156.6(MTMR2):c.*212A>C
NM_016156.6(MTMR2):c.*239A>T
NM_016156.6(MTMR2):c.*335T>C
NM_016156.6(MTMR2):c.*810C>G
NM_016156.6(MTMR2):c.*825G>A
NM_016156.6(MTMR2):c.-15T>C
NM_016156.6(MTMR2):c.-81G>A
NM_016156.6(MTMR2):c.-89C>G
NM_016156.6(MTMR2):c.10A>G (p.Ser4Gly)
NM_016156.6(MTMR2):c.11G>C (p.Ser4Thr)
NM_016156.6(MTMR2):c.1220A>G (p.Glu407Gly)
NM_016156.6(MTMR2):c.139T>C (p.Ser47Pro)
NM_016156.6(MTMR2):c.1534del (p.Leu512fs) rs1590970977
NM_016156.6(MTMR2):c.1593+1G>A
NM_016156.6(MTMR2):c.162C>T (p.Ala54=)
NM_016156.6(MTMR2):c.1637G>A (p.Ser546Asn)
NM_016156.6(MTMR2):c.1637G>C (p.Ser546Thr)
NM_016156.6(MTMR2):c.1651T>C (p.Phe551Leu)
NM_016156.6(MTMR2):c.1723C>G (p.Leu575Val)
NM_016156.6(MTMR2):c.1763A>C (p.Lys588Thr)
NM_016156.6(MTMR2):c.1810C>T (p.Arg604Ter)
NM_016156.6(MTMR2):c.1843C>T (p.Gln615Ter)
NM_016156.6(MTMR2):c.1851_1852del (p.Glu617fs)
NM_016156.6(MTMR2):c.1862G>C (p.Arg621Pro)
NM_016156.6(MTMR2):c.1867A>G (p.Thr623Ala)
NM_016156.6(MTMR2):c.1915G>T (p.Val639Phe)
NM_016156.6(MTMR2):c.20_21delinsTT (p.Cys7Phe)
NM_016156.6(MTMR2):c.22G>A (p.Glu8Lys)
NM_016156.6(MTMR2):c.23_24AG[1] (p.Leu10fs) rs1591060788
NM_016156.6(MTMR2):c.248A>C (p.Asn83Thr)
NM_016156.6(MTMR2):c.282A>G (p.Ile94Met)
NM_016156.6(MTMR2):c.289T>A (p.Phe97Ile)
NM_016156.6(MTMR2):c.324del (p.Asn109fs) rs1590997478
NM_016156.6(MTMR2):c.352G>A (p.Glu118Lys)
NM_016156.6(MTMR2):c.404T>C (p.Val135Ala)
NM_016156.6(MTMR2):c.432_434del (p.Gly145del)
NM_016156.6(MTMR2):c.479A>C (p.Asn160Thr)
NM_016156.6(MTMR2):c.508C>T (p.Arg170Trp)
NM_016156.6(MTMR2):c.52C>T (p.Arg18Trp)
NM_016156.6(MTMR2):c.67G>T (p.Asp23Tyr)
NM_016156.6(MTMR2):c.718T>A (p.Tyr240Asn)
NM_016156.6(MTMR2):c.721C>T (p.Pro241Ser)
NM_016156.6(MTMR2):c.77C>T (p.Ser26Phe)
NM_016156.6(MTMR2):c.841A>G (p.Ile281Val)
NM_201278.3(MTMR2):c.*345_*346CT[1] rs762396029
NM_201278.3(MTMR2):c.537_539TGA[1] (p.Asp180del) rs878855016

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