ClinVar Miner

List of variants in gene MTR

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Gene type:
ClinVar version:
Total variants: 251
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HGVS dbSNP
MTR, IVS3AS, A-G, -166
MTR, IVS6AS, G-A, LYS203
NC_000001.11:g.(?_236795684)_(236897664_?)del
NC_000001.11:g.236821262_236965080del143819
NM_000254.2(MTR):c.*1022G>T rs559273459
NM_000254.2(MTR):c.*1030A>G rs886046229
NM_000254.2(MTR):c.*1105G>C rs886046230
NM_000254.2(MTR):c.*112A>C rs2853522
NM_000254.2(MTR):c.*1133C>T rs543533866
NM_000254.2(MTR):c.*1134G>A rs545746282
NM_000254.2(MTR):c.*1147T>G rs533161726
NM_000254.2(MTR):c.*1252C>T rs886046231
NM_000254.2(MTR):c.*1254A>C rs2853523
NM_000254.2(MTR):c.*1361A>G rs1050993
NM_000254.2(MTR):c.*1383C>T rs73131123
NM_000254.2(MTR):c.*1451T>G rs147859146
NM_000254.2(MTR):c.*1469T>C rs3768159
NM_000254.2(MTR):c.*1488T>C rs3768160
NM_000254.2(MTR):c.*153A>G rs11799670
NM_000254.2(MTR):c.*1585C>T rs185371406
NM_000254.2(MTR):c.*1657C>T rs886046232
NM_000254.2(MTR):c.*1684C>T rs1804742
NM_000254.2(MTR):c.*16delT rs67705775
NM_000254.2(MTR):c.*1732T>C rs886046233
NM_000254.2(MTR):c.*1744A>G rs114324996
NM_000254.2(MTR):c.*1785A>G rs886046234
NM_000254.2(MTR):c.*1786C>G rs886046235
NM_000254.2(MTR):c.*1864T>C rs886046236
NM_000254.2(MTR):c.*1912G>T rs187377255
NM_000254.2(MTR):c.*2114A>G rs374226121
NM_000254.2(MTR):c.*2197C>G rs886046237
NM_000254.2(MTR):c.*2276G>A rs886046238
NM_000254.2(MTR):c.*2343A>G rs749974205
NM_000254.2(MTR):c.*2364C>T rs886046239
NM_000254.2(MTR):c.*2388G>C rs78990641
NM_000254.2(MTR):c.*2391G>C rs1050996
NM_000254.2(MTR):c.*2538A>G rs148021206
NM_000254.2(MTR):c.*2560A>G rs9779
NM_000254.2(MTR):c.*2726A>G rs777641850
NM_000254.2(MTR):c.*2773_*2774dupAA rs34686098
NM_000254.2(MTR):c.*2774dupA rs34686098
NM_000254.2(MTR):c.*2775_*2776delGA rs1553332314
NM_000254.2(MTR):c.*2804T>C rs10925263
NM_000254.2(MTR):c.*286C>T rs78201060
NM_000254.2(MTR):c.*2879G>A rs74992803
NM_000254.2(MTR):c.*287G>A rs149786323
NM_000254.2(MTR):c.*2887C>G rs141686413
NM_000254.2(MTR):c.*2994A>C rs886046240
NM_000254.2(MTR):c.*3140G>A rs3768161
NM_000254.2(MTR):c.*3166C>T rs184847683
NM_000254.2(MTR):c.*3174C>T rs41305961
NM_000254.2(MTR):c.*3226A>G rs886046241
NM_000254.2(MTR):c.*3230G>C rs747348673
NM_000254.2(MTR):c.*3320G>A rs886046242
NM_000254.2(MTR):c.*3322C>G rs76520920
NM_000254.2(MTR):c.*3428G>A rs766044983
NM_000254.2(MTR):c.*3446G>A rs556216016
NM_000254.2(MTR):c.*3464A>G rs61400757
NM_000254.2(MTR):c.*3493A>G rs41304165
NM_000254.2(MTR):c.*3601G>A rs59514993
NM_000254.2(MTR):c.*3677T>G rs886046243
NM_000254.2(MTR):c.*3682T>G rs6676866
NM_000254.2(MTR):c.*3683_*3684insTTAA rs149280661
NM_000254.2(MTR):c.*3808A>G rs886046244
NM_000254.2(MTR):c.*3824delC rs398089986
NM_000254.2(MTR):c.*3910G>A rs548764271
NM_000254.2(MTR):c.*3988G>A rs886046245
NM_000254.2(MTR):c.*4065A>G rs6677090
NM_000254.2(MTR):c.*4114A>C rs748733372
NM_000254.2(MTR):c.*4145C>G rs886046246
NM_000254.2(MTR):c.*4148A>G rs886046247
NM_000254.2(MTR):c.*4286T>C rs6679990
NM_000254.2(MTR):c.*4292G>A rs886046248
NM_000254.2(MTR):c.*4347A>T rs767109806
NM_000254.2(MTR):c.*4382C>T rs4659746
NM_000254.2(MTR):c.*4409G>C rs552497372
NM_000254.2(MTR):c.*4423C>G rs376059299
NM_000254.2(MTR):c.*4443C>T rs189875201
NM_000254.2(MTR):c.*4461T>G rs113118968
NM_000254.2(MTR):c.*4639G>T rs10925264
NM_000254.2(MTR):c.*4648G>A rs142399284
NM_000254.2(MTR):c.*465T>A rs114724980
NM_000254.2(MTR):c.*4776A>C rs79548228
NM_000254.2(MTR):c.*4823G>A rs74322958
NM_000254.2(MTR):c.*485G>A rs886046222
NM_000254.2(MTR):c.*4866T>G rs45563435
NM_000254.2(MTR):c.*5112A>G rs886046249
NM_000254.2(MTR):c.*5170A>G rs6680753
NM_000254.2(MTR):c.*5209_*5213delAAAAC rs141529013
NM_000254.2(MTR):c.*5209_*5213dupAAAAC rs141529013
NM_000254.2(MTR):c.*5248A>G rs886046250
NM_000254.2(MTR):c.*5255T>C rs886046251
NM_000254.2(MTR):c.*5294G>C rs16834539
NM_000254.2(MTR):c.*5344G>A rs886046252
NM_000254.2(MTR):c.*5352C>G rs886046253
NM_000254.2(MTR):c.*5497dupA rs546911656
NM_000254.2(MTR):c.*5535G>A rs16834541
NM_000254.2(MTR):c.*5537T>C rs564374552
NM_000254.2(MTR):c.*5639A>G rs886046254
NM_000254.2(MTR):c.*5837dupT rs3216014
NM_000254.2(MTR):c.*5882G>A rs2282368
NM_000254.2(MTR):c.*5884A>G rs753149267
NM_000254.2(MTR):c.*5909C>T rs14354
NM_000254.2(MTR):c.*5956A>T rs886046256
NM_000254.2(MTR):c.*5977A>T rs886046257
NM_000254.2(MTR):c.*6101A>C rs886046258
NM_000254.2(MTR):c.*6243A>G rs886046259
NM_000254.2(MTR):c.*755T>G rs746367734
NM_000254.2(MTR):c.*760G>T rs886046223
NM_000254.2(MTR):c.*765T>G rs886046224
NM_000254.2(MTR):c.*773delT rs796166778
NM_000254.2(MTR):c.*820A>G rs886046225
NM_000254.2(MTR):c.*905G>A rs1131450
NM_000254.2(MTR):c.*917G>A rs886046226
NM_000254.2(MTR):c.*921A>C rs886046227
NM_000254.2(MTR):c.*943T>C rs536644478
NM_000254.2(MTR):c.*945delC rs886046228
NM_000254.2(MTR):c.-108G>C rs750631109
NM_000254.2(MTR):c.-111C>T rs113809927
NM_000254.2(MTR):c.-133G>A rs886046216
NM_000254.2(MTR):c.-13_-11delGAG rs1064794430
NM_000254.2(MTR):c.-151C>T rs41305572
NM_000254.2(MTR):c.-173G>T rs3738548
NM_000254.2(MTR):c.-198C>G rs886046215
NM_000254.2(MTR):c.-201C>G rs111840642
NM_000254.2(MTR):c.-249C>T rs886046214
NM_000254.2(MTR):c.-321C>G rs187186973
NM_000254.2(MTR):c.-379C>T rs774502590
NM_000254.2(MTR):c.-413C>A rs556504622
NM_000254.2(MTR):c.-67C>T rs3738547
NM_000254.2(MTR):c.-6G>C rs183719210
NM_000254.2(MTR):c.1033G>A (p.Val345Ile) rs145006491
NM_000254.2(MTR):c.1067T>C (p.Leu356Ser) rs1286773616
NM_000254.2(MTR):c.1075+7C>T rs202157685
NM_000254.2(MTR):c.1076-11C>T rs186367553
NM_000254.2(MTR):c.1076-8C>T rs115186224
NM_000254.2(MTR):c.1080A>G (p.Leu360=) rs141861479
NM_000254.2(MTR):c.1086C>G (p.Pro362=) rs779393795
NM_000254.2(MTR):c.108G>A (p.Gly36=) rs1057523951
NM_000254.2(MTR):c.1128G>A (p.Glu376=) rs759636736
NM_000254.2(MTR):c.1141G>A (p.Ala381Thr) rs144777709
NM_000254.2(MTR):c.1228G>C (p.Ala410Pro) rs121913582
NM_000254.2(MTR):c.1232A>C (p.Gln411Pro) rs886046219
NM_000254.2(MTR):c.1266A>G (p.Leu422=) rs984927112
NM_000254.2(MTR):c.1310C>A (p.Ser437Tyr) rs368619885
NM_000254.2(MTR):c.1395G>A (p.Gly465=) rs372015549
NM_000254.2(MTR):c.1437C>T (p.Asp479=) rs115424814
NM_000254.2(MTR):c.155G>A (p.Arg52Gln) rs12749581
NM_000254.2(MTR):c.1575A>T (p.Lys525Asn) rs199700767
NM_000254.2(MTR):c.1722T>C (p.Ser574=) rs142857114
NM_000254.2(MTR):c.1753C>T (p.Arg585Ter) rs121913580
NM_000254.2(MTR):c.181A>C (p.Arg61=) rs886046217
NM_000254.2(MTR):c.1862A>G (p.Asp621Gly)
NM_000254.2(MTR):c.1942C>T (p.Arg648Cys) rs886046220
NM_000254.2(MTR):c.1953+6G>C rs147410975
NM_000254.2(MTR):c.1953+7A>G rs777871271
NM_000254.2(MTR):c.1954-6A>G rs1553321372
NM_000254.2(MTR):c.1977A>G (p.Lys659=) rs144767461
NM_000254.2(MTR):c.1_2delAT (p.Met1Valfs) rs1367402633
NM_000254.2(MTR):c.2003delA (p.Asn668Metfs) rs1064796330
NM_000254.2(MTR):c.2014G>A (p.Glu672Lys) rs142774813
NM_000254.2(MTR):c.2043+10A>G rs375005444
NM_000254.2(MTR):c.2044-11G>T rs570088952
NM_000254.2(MTR):c.2044-11delG rs371884645
NM_000254.2(MTR):c.2044-9C>T rs531027742
NM_000254.2(MTR):c.2114_2115del (p.Leu705Glnfs) rs797044444
NM_000254.2(MTR):c.2165T>C (p.Leu722Pro) rs1553321807
NM_000254.2(MTR):c.2196+19G>T rs372533462
NM_000254.2(MTR):c.2245C>T (p.Pro749Ser) rs142250261
NM_000254.2(MTR):c.2349C>T (p.Asp783=) rs150734119
NM_000254.2(MTR):c.2405+8A>G rs886046221
NM_000254.2(MTR):c.2454T>C (p.Ala818=) rs769066955
NM_000254.2(MTR):c.2473+14A>G rs193210789
NM_000254.2(MTR):c.2473+8G>T rs144061765
NM_000254.2(MTR):c.2474-18T>A rs10925256
NM_000254.2(MTR):c.2474-19_2474-15delTTAAA rs781239294
NM_000254.2(MTR):c.2474-4dupA rs546254033
NM_000254.2(MTR):c.250-1G>C
NM_000254.2(MTR):c.250-7G>A rs184332230
NM_000254.2(MTR):c.2594+15T>C rs1770449
NM_000254.2(MTR):c.2622G>A (p.Pro874=) rs141919148
NM_000254.2(MTR):c.2640_2642del (p.Ile881del) rs797044443
NM_000254.2(MTR):c.2669_2670delTG (p.Val890Glyfs) rs794727395
NM_000254.2(MTR):c.2686C>T (p.Leu896=) rs147762307
NM_000254.2(MTR):c.2703A>G (p.Leu901=) rs780615625
NM_000254.2(MTR):c.2738A>T (p.Tyr913Phe) rs1553327531
NM_000254.2(MTR):c.2756A>G (p.Asp919Gly) rs1805087
NM_000254.2(MTR):c.2758C>G (p.His920Asp) rs121913579
NM_000254.2(MTR):c.2772C>G (p.Leu924=) rs533541925
NM_000254.2(MTR):c.2775+17G>T rs763995449
NM_000254.2(MTR):c.2815G>C (p.Gly939Arg) rs113042166
NM_000254.2(MTR):c.2910G>A (p.Val970=) rs769690083
NM_000254.2(MTR):c.2971C>T (p.Arg991Ter)
NM_000254.2(MTR):c.2994C>T (p.Asn998=) rs778549407
NM_000254.2(MTR):c.3003A>T (p.Thr1001=) rs1057520933
NM_000254.2(MTR):c.3007+20C>A rs149877608
NM_000254.2(MTR):c.3035A>T (p.Asp1012Val) rs201901663
NM_000254.2(MTR):c.3079C>T (p.Arg1027Trp) rs116836001
NM_000254.2(MTR):c.3126C>T (p.Asp1042=) rs529430607
NM_000254.2(MTR):c.3141C>T (p.Tyr1047=) rs560615373
NM_000254.2(MTR):c.3142_3144delGCAinsACG (p.Ala1048Thr) rs1064796193
NM_000254.2(MTR):c.3144A>G (p.Ala1048=) rs2229276
NM_000254.2(MTR):c.3337G>A (p.Ala1113Thr) rs146071220
NM_000254.2(MTR):c.3380dup (p.Ala1128Glyfs) rs797044445
NM_000254.2(MTR):c.34+10C>T rs376679817
NM_000254.2(MTR):c.34+13C>A rs370004550
NM_000254.2(MTR):c.340-6C>T rs7526063
NM_000254.2(MTR):c.3405+18C>T rs374485228
NM_000254.2(MTR):c.3474G>A (p.Leu1158=) rs142113735
NM_000254.2(MTR):c.3477C>T (p.Asp1159=) rs117061132
NM_000254.2(MTR):c.3491G>A (p.Arg1164His) rs61736326
NM_000254.2(MTR):c.3492C>A (p.Arg1164=) rs12070777
NM_000254.2(MTR):c.3496C>T (p.Leu1166=) rs12030699
NM_000254.2(MTR):c.35-19A>G rs372886393
NM_000254.2(MTR):c.3500G>A (p.Arg1167Gln) rs556429682
NM_000254.2(MTR):c.3516C>T (p.Arg1172=) rs750050502
NM_000254.2(MTR):c.3518C>T (p.Pro1173Leu) rs121913578
NM_000254.2(MTR):c.3552C>T (p.Thr1184=) rs760793648
NM_000254.2(MTR):c.3576C>T (p.Leu1192=) rs1131449
NM_000254.2(MTR):c.3583A>G (p.Ile1195Val) rs149476106
NM_000254.2(MTR):c.3598+15G>A rs754129736
NM_000254.2(MTR):c.3599-10C>A rs41530146
NM_000254.2(MTR):c.3599-11G>A rs76731959
NM_000254.2(MTR):c.3599-18C>T rs116444161
NM_000254.2(MTR):c.3600del (p.Ile1201Leufs)
NM_000254.2(MTR):c.3613G>T (p.Glu1205Ter) rs121913581
NM_000254.2(MTR):c.3636T>C (p.Ala1212=) rs767100856
NM_000254.2(MTR):c.3665A>G (p.Asn1222Ser) rs61739582
NM_000254.2(MTR):c.3711+15G>T rs3820571
NM_000254.2(MTR):c.3711+8A>C rs1057523709
NM_000254.2(MTR):c.3712-7T>G rs151081130
NM_000254.2(MTR):c.3712-8T>C rs12022937
NM_000254.2(MTR):c.409+15_409+17delTCT rs750828089
NM_000254.2(MTR):c.409+7A>C rs886046218
NM_000254.2(MTR):c.486G>A (p.Pro162=) rs747494979
NM_000254.2(MTR):c.609+1092G>A rs1057521391
NM_000254.2(MTR):c.609+10G>A rs956538334
NM_000254.2(MTR):c.639T>C (p.Phe213=) rs568734591
NM_000254.2(MTR):c.659G>A (p.Arg220Gln) rs780526997
NM_000254.2(MTR):c.669+20C>T rs200305844
NM_000254.2(MTR):c.742G>A (p.Val248Met) rs142648132
NM_000254.2(MTR):c.764+16T>C rs138222686
NM_000254.2(MTR):c.764+6T>C rs377357761
NM_000254.2(MTR):c.765-5delT rs1064795174
NM_000254.2(MTR):c.858C>T (p.Pro286=) rs146019467
NM_000254.2(MTR):c.865+1G>T
NM_000254.2(MTR):c.866-10C>G rs368755647
NM_000254.2(MTR):c.899C>T (p.Thr300Met)
NM_000254.2(MTR):c.901C>G (p.Pro301Ala) rs766371534
NM_000254.2(MTR):c.928-11C>A rs747767873
NM_000254.2(MTR):c.940G>A (p.Asp314Asn) rs2229274

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