ClinVar Miner

List of variants in gene MTMR2 studied for Charcot-Marie-Tooth disease type 4

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 465
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HGVS dbSNP gnomAD frequency
NM_016156.6(MTMR2):c.1131C>T (p.Thr377=) rs566204 0.28363
NM_016156.6(MTMR2):c.*1419G>A rs496305 0.27825
NM_016156.6(MTMR2):c.*1934T>C rs525404 0.27753
NM_016156.6(MTMR2):c.*1568C>T rs596277 0.27751
NM_016156.6(MTMR2):c.*549G>A rs611020 0.27729
NM_016156.6(MTMR2):c.8A>C (p.Lys3Thr) rs3824874 0.27654
NM_016156.6(MTMR2):c.*1066T>C rs16922622 0.07419
NM_016156.6(MTMR2):c.*1396C>T rs16922615 0.07185
NM_016156.6(MTMR2):c.*1444C>G rs149223349 0.04087
NM_016156.6(MTMR2):c.1756C>A (p.Arg586=) rs61735577 0.04066
NM_016156.6(MTMR2):c.*2014T>G rs112404010 0.03885
NM_016156.6(MTMR2):c.1504G>C (p.Glu502Gln) rs61735578 0.03636
NM_016156.6(MTMR2):c.80+13C>T rs139510268 0.01848
NM_016156.6(MTMR2):c.*2406C>T rs16922613 0.01655
NM_016156.6(MTMR2):c.1233G>A (p.Thr411=) rs113897932 0.01619
NM_016156.6(MTMR2):c.*1952G>A rs118033833 0.01538
NM_016156.6(MTMR2):c.1634A>G (p.Asn545Ser) rs558018 0.01295
NM_016156.6(MTMR2):c.*85A>C rs578159 0.01009
NM_016156.6(MTMR2):c.547G>T (p.Ala183Ser) rs142155860 0.00492
NM_016156.6(MTMR2):c.*1684A>C rs79576160 0.00401
NM_016156.6(MTMR2):c.570+11T>C rs182582445 0.00390
NM_016156.6(MTMR2):c.*837G>A rs532069328 0.00323
NM_016156.6(MTMR2):c.1770+7_1770+12del rs754608173 0.00319
NM_016156.6(MTMR2):c.130G>A (p.Val44Ile) rs146004831 0.00293
NM_016156.6(MTMR2):c.*1826C>A rs145394232 0.00242
NM_016156.6(MTMR2):c.*2187A>G rs141738388 0.00241
NM_016156.6(MTMR2):c.1488C>T (p.Thr496=) rs112327353 0.00216
NM_016156.6(MTMR2):c.*825G>A rs192257681 0.00201
NM_016156.6(MTMR2):c.1757G>A (p.Arg586Gln) rs61735576 0.00175
NM_016156.6(MTMR2):c.*207A>G rs185702937 0.00170
NM_016156.6(MTMR2):c.1855T>C (p.Ser619Pro) rs116750638 0.00169
NM_016156.6(MTMR2):c.*212A>C rs372852182 0.00074
NM_016156.6(MTMR2):c.1805C>G (p.Ala602Gly) rs76784113 0.00069
NM_016156.6(MTMR2):c.1336G>A (p.Glu446Lys) rs146572467 0.00053
NM_016156.6(MTMR2):c.-81G>A rs772112416 0.00036
NM_016156.6(MTMR2):c.*1089C>G rs147982779 0.00031
NM_016156.6(MTMR2):c.*1888del rs775823662 0.00029
NM_016156.6(MTMR2):c.1563C>A (p.Leu521=) rs772490648 0.00026
NM_016156.6(MTMR2):c.1353A>G (p.Lys451=) rs114336434 0.00021
NM_016156.6(MTMR2):c.1106T>C (p.Ile369Thr) rs200083635 0.00019
NM_016156.6(MTMR2):c.1897G>A (p.Ala633Thr) rs532885622 0.00017
NM_016156.6(MTMR2):c.*910T>A rs555290971 0.00015
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.*133C>G rs367677499 0.00013
NM_016156.6(MTMR2):c.33C>T (p.Gly11=) rs777455436 0.00012
NM_016156.6(MTMR2):c.1303T>C (p.Leu435=) rs767737380 0.00011
NM_016156.6(MTMR2):c.624A>G (p.Leu208=) rs979063255 0.00011
NM_016156.6(MTMR2):c.1594-20C>A rs201996397 0.00010
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.279T>C (p.Tyr93=) rs372937811 0.00009
NM_016156.6(MTMR2):c.298G>A (p.Ala100Thr) rs370701984 0.00008
NM_016156.6(MTMR2):c.993+9G>C rs201595704 0.00008
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.1395C>T (p.Gly465=) rs369925329 0.00006
NM_016156.6(MTMR2):c.1402G>C (p.Asp468His) rs142460913 0.00006
NM_016156.6(MTMR2):c.1431G>A (p.Ser477=) rs200285624 0.00006
NM_016156.6(MTMR2):c.1461C>T (p.Val487=) rs372932127 0.00006
NM_016156.6(MTMR2):c.14C>G (p.Ser5Trp) rs778430688 0.00006
NM_016156.6(MTMR2):c.993+20A>T rs373288455 0.00006
NM_016156.6(MTMR2):c.1386+13C>A rs377431314 0.00005
NM_016156.6(MTMR2):c.1551C>T (p.Phe517=) rs775961979 0.00005
NM_016156.6(MTMR2):c.54G>A (p.Arg18=) rs372164252 0.00005
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.*2042G>C rs923425383 0.00004
NM_016156.6(MTMR2):c.1479+17A>G rs760613129 0.00004
NM_016156.6(MTMR2):c.186+9A>G rs371081575 0.00004
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.447T>C (p.Tyr149=) rs776023078 0.00004
NM_016156.6(MTMR2):c.655-8A>G rs768562214 0.00004
NM_016156.6(MTMR2):c.80+7A>G rs1376851490 0.00004
NM_016156.6(MTMR2):c.*1150C>T rs886048766 0.00003
NM_016156.6(MTMR2):c.*190G>A rs886048769 0.00003
NM_016156.6(MTMR2):c.*335T>C rs1565341245 0.00003
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.522C>T (p.Ser174=) rs146014892 0.00003
NM_016156.6(MTMR2):c.655-19T>C rs756828009 0.00003
NM_016156.6(MTMR2):c.960T>C (p.Asp320=) rs776038747 0.00003
NM_016156.6(MTMR2):c.*2357T>C rs886048762 0.00002
NM_016156.6(MTMR2):c.*660G>A rs886048768 0.00002
NM_016156.6(MTMR2):c.-89C>G rs868256702 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.1248T>C (p.His416=) rs779618687 0.00002
NM_016156.6(MTMR2):c.1345G>A (p.Val449Met) rs776520645 0.00002
NM_016156.6(MTMR2):c.1386+14C>T rs756723447 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.1479+12G>A rs763917620 0.00002
NM_016156.6(MTMR2):c.1755A>T (p.Pro585=) rs138036650 0.00002
NM_016156.6(MTMR2):c.1832T>C (p.Val611Ala) rs1271455669 0.00002
NM_016156.6(MTMR2):c.1862G>A (p.Arg621Gln) rs371925152 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.297C>T (p.Gly99=) rs772347980 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.*1271A>G rs1863141196 0.00001
NM_016156.6(MTMR2):c.*679A>C rs776788118 0.00001
NM_016156.6(MTMR2):c.-82C>T rs886048773 0.00001
NM_016156.6(MTMR2):c.1090C>T (p.Arg364Ter) rs776757548 0.00001
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.1179+7G>A rs750955214 0.00001
NM_016156.6(MTMR2):c.1180-11C>T rs1200941827 0.00001
NM_016156.6(MTMR2):c.1187T>C (p.Leu396Pro) rs770852495 0.00001
NM_016156.6(MTMR2):c.1276C>T (p.Gln426Ter) rs121434402 0.00001
NM_016156.6(MTMR2):c.1281C>A (p.Leu427=) rs199542109 0.00001
NM_016156.6(MTMR2):c.1312T>C (p.Tyr438His) rs1360581554 0.00001
NM_016156.6(MTMR2):c.1318C>T (p.Arg440Ter) rs751677491 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.1339G>A (p.Val447Ile) rs769693714 0.00001
NM_016156.6(MTMR2):c.1362_1363del (p.Ser455fs) rs1177373744 0.00001
NM_016156.6(MTMR2):c.1386+8A>C rs371105248 0.00001
NM_016156.6(MTMR2):c.1387-7G>A rs1279840467 0.00001
NM_016156.6(MTMR2):c.1446A>G (p.Gln482=) rs376166939 0.00001
NM_016156.6(MTMR2):c.146C>G (p.Ser49Cys) rs1170327910 0.00001
NM_016156.6(MTMR2):c.1479+13G>A rs968902751 0.00001
NM_016156.6(MTMR2):c.1480-20T>C rs371041744 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.1536A>G (p.Leu512=) rs1015773638 0.00001
NM_016156.6(MTMR2):c.1594-9T>G rs774704606 0.00001
NM_016156.6(MTMR2):c.1618C>T (p.Leu540=) rs142687077 0.00001
NM_016156.6(MTMR2):c.162C>T (p.Ala54=) rs547213836 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.186+16T>C rs1325405868 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.213A>G (p.Ala71=) rs1402885565 0.00001
NM_016156.6(MTMR2):c.240A>C (p.Pro80=) rs201920176 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.330T>C (p.Tyr110=) rs777436469 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.393G>C (p.Val131=) rs757865509 0.00001
NM_016156.6(MTMR2):c.414T>C (p.Ile138=) rs754358489 0.00001
NM_016156.6(MTMR2):c.430C>T (p.Arg144Ter) rs1864438088 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.469-9C>A rs779741464 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.507G>A (p.Gly169=) rs753188177 0.00001
NM_016156.6(MTMR2):c.52C>T (p.Arg18Trp) rs1177699275 0.00001
NM_016156.6(MTMR2):c.567C>T (p.Asn189=) rs1864293535 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.654+13T>C rs1170437168 0.00001
NM_016156.6(MTMR2):c.75G>A (p.Leu25=) rs1376231939 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.81-4G>C rs757563852 0.00001
NM_016156.6(MTMR2):c.81-7T>G rs750842659 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.883C>T (p.Arg295Ter) rs1171462240 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
NM_016156.6(MTMR2):c.984T>C (p.Val328=) rs116691712 0.00001
NC_000011.9:g.(?_95568444)_(95568625_?)dup
NC_000011.9:g.(?_95568454)_(95598860_?)del
NC_000011.9:g.(?_95568454)_(95657118_?)dup
NC_000011.9:g.(?_95574771)_(95598850_?)dup
NM_016156.5(MTMR2):c.-222G>C rs746848952
NM_016156.6(MTMR2):c.*1036C>T rs1863154187
NM_016156.6(MTMR2):c.*1100_*1103dup rs886048767
NM_016156.6(MTMR2):c.*1226_*1228del rs142663762
NM_016156.6(MTMR2):c.*1249G>A rs1863142451
NM_016156.6(MTMR2):c.*1339T>G rs547240331
NM_016156.6(MTMR2):c.*1343_*1344del rs886048765
NM_016156.6(MTMR2):c.*1425A>G rs886048764
NM_016156.6(MTMR2):c.*1656T>G rs1006542556
NM_016156.6(MTMR2):c.*1822T>G rs562826516
NM_016156.6(MTMR2):c.*2038C>G rs886048763
NM_016156.6(MTMR2):c.*239A>T rs574781741
NM_016156.6(MTMR2):c.*345CT[1] rs762396029
NM_016156.6(MTMR2):c.*810C>G rs1863164114
NM_016156.6(MTMR2):c.*987T>C rs57807625
NM_016156.6(MTMR2):c.1005A>C (p.Gly335=)
NM_016156.6(MTMR2):c.1029T>C (p.Tyr343=)
NM_016156.6(MTMR2):c.1034del (p.Asn345fs) rs863224516
NM_016156.6(MTMR2):c.1071T>C (p.His357=) rs2135434145
NM_016156.6(MTMR2):c.1096del (p.Lys367fs)
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.1143T>G (p.Ser381=)
NM_016156.6(MTMR2):c.1164G>A (p.Trp388Ter) rs1555060024
NM_016156.6(MTMR2):c.1170A>G (p.Glu390=) rs199736240
NM_016156.6(MTMR2):c.1175T>C (p.Ile392Thr) rs1555060014
NM_016156.6(MTMR2):c.1179+16T>C
NM_016156.6(MTMR2):c.1180-11C>G
NM_016156.6(MTMR2):c.1180-17A>T
NM_016156.6(MTMR2):c.1180-4C>T
NM_016156.6(MTMR2):c.1180-9G>A rs1347066495
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.1236T>C (p.Ser412=)
NM_016156.6(MTMR2):c.1239G>A (p.Val413=)
NM_016156.6(MTMR2):c.1239_1240del (p.Val414fs) rs1863723947
NM_016156.6(MTMR2):c.1281C>T (p.Leu427=) rs199542109
NM_016156.6(MTMR2):c.1299C>T (p.Leu433=)
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.1375C>A (p.Arg459=)
NM_016156.6(MTMR2):c.1377A>T (p.Arg459=)
NM_016156.6(MTMR2):c.1386+13C>T
NM_016156.6(MTMR2):c.1386+17G>A
NM_016156.6(MTMR2):c.1387-13_1387-12del
NM_016156.6(MTMR2):c.1387-3C>T rs2135417340
NM_016156.6(MTMR2):c.1387-8T>C
NM_016156.6(MTMR2):c.1389A>G (p.Arg463=) rs2135417320
NM_016156.6(MTMR2):c.1410C>T (p.Asn470=)
NM_016156.6(MTMR2):c.1411C>T (p.His471Tyr) rs1193305699
NM_016156.6(MTMR2):c.141A>G (p.Ser47=)
NM_016156.6(MTMR2):c.1425C>T (p.Asp475=) rs2135417226
NM_016156.6(MTMR2):c.1431G>C (p.Ser477=) rs200285624
NM_016156.6(MTMR2):c.1434T>G (p.Pro478=) rs2135417185
NM_016156.6(MTMR2):c.1444C>T (p.Gln482Ter) rs121434404
NM_016156.6(MTMR2):c.1454_1457del (p.Asp485fs) rs1590974596
NM_016156.6(MTMR2):c.1457G>C (p.Cys486Ser) rs765313279
NM_016156.6(MTMR2):c.1458T>C (p.Cys486=)
NM_016156.6(MTMR2):c.1459_1460del (p.Val487fs) rs758637255
NM_016156.6(MTMR2):c.1462T>C (p.Trp488Arg)
NM_016156.6(MTMR2):c.1479+19_1479+23del
NM_016156.6(MTMR2):c.1479+1G>A rs1590974546
NM_016156.6(MTMR2):c.1480-18G>A
NM_016156.6(MTMR2):c.1480-4G>C rs1590971136
NM_016156.6(MTMR2):c.1490dup (p.Phe498fs) rs1590971080
NM_016156.6(MTMR2):c.1492T>C (p.Phe498Leu)
NM_016156.6(MTMR2):c.1531C>T (p.His511Tyr) rs761100126
NM_016156.6(MTMR2):c.1537_1538dup (p.Ser514fs) rs1555057316
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.1591G>T (p.Glu531Ter) rs1863365049
NM_016156.6(MTMR2):c.1593+1G>A rs1590970875
NM_016156.6(MTMR2):c.1593+9T>G rs1590970870
NM_016156.6(MTMR2):c.1594-4A>G rs1863282999
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.1641G>A (p.Gln547=)
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.1674C>T (p.Ser558=) rs1555056924
NM_016156.6(MTMR2):c.1682A>C (p.Asn561Thr)
NM_016156.6(MTMR2):c.1695T>C (p.Tyr565=) rs1555056916
NM_016156.6(MTMR2):c.1707C>T (p.Ser569=)
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.1734A>G (p.Gly578=)
NM_016156.6(MTMR2):c.1736_1745delinsCC (p.Tyr579fs) rs1863269109
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.1768C>T (p.Gln590Ter) rs1565342506
NM_016156.6(MTMR2):c.1770+12A>G rs1863265850
NM_016156.6(MTMR2):c.1770+15A>G
NM_016156.6(MTMR2):c.1770+18T>C
NM_016156.6(MTMR2):c.1770+20C>A
NM_016156.6(MTMR2):c.1770+3A>T
NM_016156.6(MTMR2):c.1770+4T>C rs1565342479
NM_016156.6(MTMR2):c.1770+7G>C rs908222470
NM_016156.6(MTMR2):c.1770+9_1770+20del rs958180213
NM_016156.6(MTMR2):c.1771-17_1771-16del
NM_016156.6(MTMR2):c.1774C>T (p.Pro592Ser) rs749010549
NM_016156.6(MTMR2):c.1776T>C (p.Pro592=)
NM_016156.6(MTMR2):c.1776T>G (p.Pro592=) rs1590968097
NM_016156.6(MTMR2):c.177T>G (p.Pro59=)
NM_016156.6(MTMR2):c.1807A>G (p.Lys603Glu)
NM_016156.6(MTMR2):c.1810C>A (p.Arg604=) rs138746296
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+19A>T rs12385798
NM_016156.6(MTMR2):c.186+19_186+20delinsTA
NM_016156.6(MTMR2):c.186+5624TTTTA[6] rs112378876
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.187-16G>A
NM_016156.6(MTMR2):c.187-16G>T
NM_016156.6(MTMR2):c.187-17dup rs1195059303
NM_016156.6(MTMR2):c.1876T>A (p.Ser626Thr)
NM_016156.6(MTMR2):c.1879G>A (p.Glu627Lys) rs1863216623
NM_016156.6(MTMR2):c.1882A>C (p.Arg628=)
NM_016156.6(MTMR2):c.1882_1885dup (p.Ala629fs) rs751292488
NM_016156.6(MTMR2):c.1884A>C (p.Arg628Ser) rs747684213
NM_016156.6(MTMR2):c.1896T>G (p.Pro632=) rs780764646
NM_016156.6(MTMR2):c.18C>T (p.Ser6=)
NM_016156.6(MTMR2):c.1916del (p.Val639fs) rs779740723
NM_016156.6(MTMR2):c.1917C>G (p.Val639=)
NM_016156.6(MTMR2):c.1923T>C (p.Thr641=)
NM_016156.6(MTMR2):c.20_21delinsTT (p.Cys7Phe) rs1867037031
NM_016156.6(MTMR2):c.212C>T (p.Ala71Val) rs886048772
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.25_26del (p.Leu10fs) rs1591060788
NM_016156.6(MTMR2):c.262+5G>A rs1565361115
NM_016156.6(MTMR2):c.263-14T>C
NM_016156.6(MTMR2):c.263-20_263-19del
NM_016156.6(MTMR2):c.263-9C>A rs200746130
NM_016156.6(MTMR2):c.282A>G (p.Ile94Met) rs769020850
NM_016156.6(MTMR2):c.289T>A (p.Phe97Ile) rs1864455547
NM_016156.6(MTMR2):c.304C>T (p.Arg102Ter) rs115506357
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.30T>C (p.Leu10=)
NM_016156.6(MTMR2):c.313C>G (p.Leu105Val) rs2135475998
NM_016156.6(MTMR2):c.323C>T (p.Thr108Met)
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.357+16G>C
NM_016156.6(MTMR2):c.358-14_358-12del
NM_016156.6(MTMR2):c.358-15T>C
NM_016156.6(MTMR2):c.358-8T>C
NM_016156.6(MTMR2):c.370_372del (p.Val124del) rs2135475047
NM_016156.6(MTMR2):c.37C>T (p.Gln13Ter)
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.42G>A (p.Pro14=)
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.450A>T (p.Gly150=)
NM_016156.6(MTMR2):c.454_458del (p.Glu152fs) rs1590997023
NM_016156.6(MTMR2):c.45G>A (p.Ala15=)
NM_016156.6(MTMR2):c.463T>C (p.Cys155Arg) rs1864436629
NM_016156.6(MTMR2):c.464_465del (p.Val154_Cys155insTer) rs1358449243
NM_016156.6(MTMR2):c.468+12_468+16del
NM_016156.6(MTMR2):c.468+17G>A
NM_016156.6(MTMR2):c.469-3T>C rs191224855
NM_016156.6(MTMR2):c.483A>G (p.Leu161=) rs2135464887
NM_016156.6(MTMR2):c.484C>T (p.Arg162Ter)
NM_016156.6(MTMR2):c.48G>C (p.Ala16=)
NM_016156.6(MTMR2):c.48G>T (p.Ala16=)
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.546T>C (p.Tyr182=)
NM_016156.6(MTMR2):c.553C>T (p.Pro185Ser) rs577896427
NM_016156.6(MTMR2):c.56C>T (p.Pro19Leu) rs574213477
NM_016156.6(MTMR2):c.571-12_571-11del
NM_016156.6(MTMR2):c.571-8_571-7insG
NM_016156.6(MTMR2):c.579dup (p.Ala194fs)
NM_016156.6(MTMR2):c.59C>T (p.Pro20Leu) rs952672162
NM_016156.6(MTMR2):c.600A>G (p.Val200=)
NM_016156.6(MTMR2):c.60C>T (p.Pro20=)
NM_016156.6(MTMR2):c.62G>A (p.Ser21Asn)
NM_016156.6(MTMR2):c.630C>T (p.Asp210=)
NM_016156.6(MTMR2):c.637T>G (p.Leu213Val)
NM_016156.6(MTMR2):c.651G>A (p.Arg217=)
NM_016156.6(MTMR2):c.654+11T>C
NM_016156.6(MTMR2):c.655-13A>C
NM_016156.6(MTMR2):c.655-4G>C rs745547533
NM_016156.6(MTMR2):c.655-4G>T rs745547533
NM_016156.6(MTMR2):c.655-7C>T rs775390447
NM_016156.6(MTMR2):c.655-8A>C
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.766_767del (p.Lys256fs) rs769429967
NM_016156.6(MTMR2):c.771_772del (p.Arg257fs)
NM_016156.6(MTMR2):c.80+14C>T
NM_016156.6(MTMR2):c.80+14_80+43del
NM_016156.6(MTMR2):c.80+17G>T
NM_016156.6(MTMR2):c.80+19G>T
NM_016156.6(MTMR2):c.80+6C>T
NM_016156.6(MTMR2):c.80+8G>A rs1867028752
NM_016156.6(MTMR2):c.800T>C (p.Ile267Thr) rs1863978401
NM_016156.6(MTMR2):c.804+16G>A rs2135442209
NM_016156.6(MTMR2):c.804+1G>C rs1565351898
NM_016156.6(MTMR2):c.804+2T>G rs1555061026
NM_016156.6(MTMR2):c.804+7A>G rs1159867051
NM_016156.6(MTMR2):c.804+8G>T
NM_016156.6(MTMR2):c.805-13T>A
NM_016156.6(MTMR2):c.805-15T>A
NM_016156.6(MTMR2):c.805-16T>A
NM_016156.6(MTMR2):c.805-19C>G
NM_016156.6(MTMR2):c.805-4T>G
NM_016156.6(MTMR2):c.805-6A>G rs766235741
NM_016156.6(MTMR2):c.805-7C>G
NM_016156.6(MTMR2):c.81-12T>C
NM_016156.6(MTMR2):c.81-13T>C
NM_016156.6(MTMR2):c.81-16C>T
NM_016156.6(MTMR2):c.81-17A>G
NM_016156.6(MTMR2):c.810A>G (p.Leu270=)
NM_016156.6(MTMR2):c.812C>T (p.Ser271Leu)
NM_016156.6(MTMR2):c.826G>T (p.Glu276Ter) rs121434403
NM_016156.6(MTMR2):c.832C>T (p.Gln278Ter) rs757563721
NM_016156.6(MTMR2):c.840A>G (p.Thr280=)
NM_016156.6(MTMR2):c.843C>A (p.Ile281=) rs1217314381
NM_016156.6(MTMR2):c.871G>A (p.Val291Met)
NM_016156.6(MTMR2):c.874del (p.Ser292fs) rs1863944217
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.909T>G (p.Leu303=)
NM_016156.6(MTMR2):c.928_929insTGATATTTACTGAGTACAGTAA (p.Asn310fs)
NM_016156.6(MTMR2):c.946A>T (p.Ile316Phe)
NM_016156.6(MTMR2):c.947dup (p.Phe317fs)
NM_016156.6(MTMR2):c.94C>G (p.His32Asp) rs1591025020
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
NM_016156.6(MTMR2):c.981T>G (p.Ala327=) rs2135439193
NM_016156.6(MTMR2):c.993+1G>A rs1555060614
NM_016156.6(MTMR2):c.993+20A>G
NM_016156.6(MTMR2):c.994-15T>C
NM_016156.6(MTMR2):c.999G>A (p.Lys333=)

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