ClinVar Miner

List of variants in gene MTR reported as uncertain significance by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 149
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HGVS dbSNP gnomAD frequency
NM_000254.3(MTR):c.*3823C>T rs189704931 0.00217
NM_000254.3(MTR):c.-6G>C rs183719210 0.00123
NM_000254.3(MTR):c.*5352C>G rs886046253 0.00105
NM_000254.3(MTR):c.*760G>T rs886046223 0.00105
NM_000254.3(MTR):c.2245C>T (p.Pro749Ser) rs142250261 0.00091
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly) rs61736440 0.00081
NM_000254.3(MTR):c.1141G>A (p.Ala381Thr) rs144777709 0.00073
NM_000254.3(MTR):c.*755T>G rs746367734 0.00070
NM_000254.3(MTR):c.2622G>A (p.Pro874=) rs141919148 0.00064
NM_000254.3(MTR):c.*1585C>T rs185371406 0.00057
NM_000254.3(MTR):c.*3988G>A rs886046245 0.00053
NM_000254.3(MTR):c.3227C>T (p.Thr1076Met) rs144991102 0.00048
NM_000254.3(MTR):c.1080A>G (p.Leu360=) rs141861479 0.00043
NM_000254.3(MTR):c.*4114A>C rs748733372 0.00041
NM_000254.3(MTR):c.*3677T>G rs886046243 0.00038
NM_000254.3(MTR):c.1977A>G (p.Lys659=) rs144767461 0.00038
NM_000254.3(MTR):c.-96C>A rs762741049 0.00035
NM_000254.3(MTR):c.*1147T>G rs533161726 0.00032
NM_000254.3(MTR):c.*4347A>T rs767109806 0.00029
NM_000254.3(MTR):c.*2726A>G rs777641850 0.00026
NM_000254.3(MTR):c.*839T>C rs565841598 0.00026
NM_000254.3(MTR):c.3035A>T (p.Asp1012Val) rs201901663 0.00026
NM_000254.3(MTR):c.2014G>A (p.Glu672Lys) rs142774813 0.00025
NM_000254.3(MTR):c.*318T>C rs756753913 0.00024
NM_000254.3(MTR):c.3770G>T (p.Gly1257Val) rs374409316 0.00022
NM_000254.3(MTR):c.*2994A>C rs886046240 0.00019
NM_000254.3(MTR):c.*212C>T rs113634132 0.00018
NM_000254.3(MTR):c.*3446G>A rs556216016 0.00017
NM_000254.3(MTR):c.*4409G>C rs552497372 0.00015
NM_000254.3(MTR):c.*4747G>A rs151281658 0.00015
NM_000254.3(MTR):c.*3166C>T rs184847683 0.00014
NM_000254.3(MTR):c.*3428G>A rs766044983 0.00014
NM_000254.3(MTR):c.2474-19_2474-15del rs781239294 0.00014
NM_000254.3(MTR):c.*2095G>A rs772375260 0.00012
NM_000254.3(MTR):c.*841C>T rs574312789 0.00012
NM_000254.3(MTR):c.*813G>T rs1481124802 0.00011
NM_000254.3(MTR):c.*1022G>T rs559273459 0.00010
NM_000254.3(MTR):c.*6101A>C rs886046258 0.00010
NM_000254.3(MTR):c.*917G>A rs886046226 0.00010
NM_000254.3(MTR):c.3552C>T (p.Thr1184=) rs760793648 0.00010
NM_000254.3(MTR):c.866-10C>G rs368755647 0.00010
NM_000254.3(MTR):c.*169C>G rs751919808 0.00009
NM_000254.3(MTR):c.*3226A>G rs886046241 0.00009
NM_000254.3(MTR):c.*5537T>C rs564374552 0.00009
NM_000254.3(MTR):c.2686C>T (p.Leu896=) rs147762307 0.00009
NM_000254.3(MTR):c.*2276G>A rs886046238 0.00008
NM_000254.3(MTR):c.*4724G>C rs914503909 0.00008
NM_000254.3(MTR):c.*945del rs886046228 0.00008
NM_000254.3(MTR):c.3126C>T (p.Asp1042=) rs529430607 0.00008
NM_000254.3(MTR):c.*899G>A rs1222133159 0.00007
NM_000254.2(MTR):c.-413C>A rs556504622 0.00006
NM_000254.3(MTR):c.*2343A>G rs749974205 0.00006
NM_000254.3(MTR):c.*485G>A rs886046222 0.00006
NM_000254.3(MTR):c.*5344G>A rs886046252 0.00006
NM_000254.3(MTR):c.1310C>A (p.Ser437Tyr) rs368619885 0.00006
NM_000254.3(MTR):c.2861C>T (p.Thr954Met) rs146931200 0.00006
NM_000254.3(MTR):c.502+13C>T rs201647375 0.00006
NM_000254.3(MTR):c.*4145C>G rs886046246 0.00005
NM_000254.3(MTR):c.*4292G>A rs886046248 0.00005
NM_000254.3(MTR):c.2994C>T (p.Asn998=) rs778549407 0.00005
NM_000254.3(MTR):c.*3320G>A rs886046242 0.00004
NM_000254.3(MTR):c.*6081C>T rs981426571 0.00004
NM_000254.3(MTR):c.1128G>A (p.Glu376=) rs759636736 0.00004
NM_000254.3(MTR):c.1722T>C (p.Ser574=) rs142857114 0.00004
NM_000254.3(MTR):c.2328G>T (p.Val776=) rs980038551 0.00004
NM_000254.3(MTR):c.250-1G>C rs145939391 0.00004
NM_000254.3(MTR):c.3500G>A (p.Arg1167Gln) rs556429682 0.00004
NM_000254.3(MTR):c.659G>A (p.Arg220Gln) rs780526997 0.00004
NM_000254.3(MTR):c.*1732T>C rs886046233 0.00003
NM_000254.3(MTR):c.*5255T>C rs886046251 0.00003
NM_000254.3(MTR):c.*820A>G rs886046225 0.00003
NM_000254.3(MTR):c.2638G>A (p.Val880Ile) rs1354755505 0.00003
NM_000254.3(MTR):c.2971C>T (p.Arg991Ter) rs536238004 0.00003
NM_000254.3(MTR):c.*201T>C rs1028919619 0.00002
NM_000254.3(MTR):c.*3298G>A rs769316399 0.00002
NM_000254.3(MTR):c.*3808A>G rs886046244 0.00002
NM_000254.3(MTR):c.*4148A>G rs886046247 0.00002
NM_000254.3(MTR):c.*5297T>C rs150365053 0.00002
NM_000254.3(MTR):c.*765T>G rs886046224 0.00002
NM_000254.3(MTR):c.*1004C>T rs1048116607 0.00001
NM_000254.3(MTR):c.*1401A>T rs1235382983 0.00001
NM_000254.3(MTR):c.*2526G>C rs931137085 0.00001
NM_000254.3(MTR):c.*314T>C rs1321445851 0.00001
NM_000254.3(MTR):c.*3389A>G rs1221746071 0.00001
NM_000254.3(MTR):c.*3554A>T rs551392979 0.00001
NM_000254.3(MTR):c.*356G>A rs898878154 0.00001
NM_000254.3(MTR):c.*4558A>C rs1166236454 0.00001
NM_000254.3(MTR):c.*56T>A rs946729660 0.00001
NM_000254.3(MTR):c.*572C>T rs190694092 0.00001
NM_000254.3(MTR):c.*5884A>G rs753149267 0.00001
NM_000254.3(MTR):c.*5892A>G rs1182780627 0.00001
NM_000254.3(MTR):c.1089C>A (p.Phe363Leu) rs145217819 0.00001
NM_000254.3(MTR):c.1695+15G>A rs750838511 0.00001
NM_000254.3(MTR):c.181A>C (p.Arg61=) rs886046217 0.00001
NM_000254.3(MTR):c.1942C>T (p.Arg648Cys) rs886046220 0.00001
NM_000254.3(MTR):c.2454T>C (p.Ala818=) rs769066955 0.00001
NM_000254.3(MTR):c.443C>T (p.Pro148Leu) rs757429726 0.00001
NM_000254.3(MTR):c.928-11C>A rs747767873 0.00001
NM_000254.3(MTR):c.*102G>A rs1293664328
NM_000254.3(MTR):c.*1030A>G rs886046229
NM_000254.3(MTR):c.*1087G>C rs1666796580
NM_000254.3(MTR):c.*1098T>C rs866559597
NM_000254.3(MTR):c.*1105G>C rs886046230
NM_000254.3(MTR):c.*1150G>A rs1666799768
NM_000254.3(MTR):c.*1252C>T rs886046231
NM_000254.3(MTR):c.*1657C>T rs886046232
NM_000254.3(MTR):c.*16del rs67705775
NM_000254.3(MTR):c.*1709C>T rs117242127
NM_000254.3(MTR):c.*1785A>G rs886046234
NM_000254.3(MTR):c.*1786C>G rs886046235
NM_000254.3(MTR):c.*1809C>A rs1666828971
NM_000254.3(MTR):c.*1864T>C rs886046236
NM_000254.3(MTR):c.*208C>G rs755483276
NM_000254.3(MTR):c.*2197C>G rs886046237
NM_000254.3(MTR):c.*2364C>T rs886046239
NM_000254.3(MTR):c.*2773_*2774dup rs34686098
NM_000254.3(MTR):c.*3230G>C rs747348673
NM_000254.3(MTR):c.*3660G>C rs1666907051
NM_000254.3(MTR):c.*3819A>G rs1666913839
NM_000254.3(MTR):c.*4039C>T rs1666922602
NM_000254.3(MTR):c.*4423C>G rs376059299
NM_000254.3(MTR):c.*4667C>A rs574334835
NM_000254.3(MTR):c.*467A>G rs1666763347
NM_000254.3(MTR):c.*5112A>G rs886046249
NM_000254.3(MTR):c.*5153T>A rs1021369210
NM_000254.3(MTR):c.*5194AAAAC[5] rs141529013
NM_000254.3(MTR):c.*5204A>G rs1666980207
NM_000254.3(MTR):c.*5248A>G rs886046250
NM_000254.3(MTR):c.*5374C>G rs1478217281
NM_000254.3(MTR):c.*5497dup rs546911656
NM_000254.3(MTR):c.*5639A>G rs886046254
NM_000254.3(MTR):c.*5956A>T rs886046256
NM_000254.3(MTR):c.*5977A>T rs886046257
NM_000254.3(MTR):c.*6243A>G rs886046259
NM_000254.3(MTR):c.*826G>C rs967834041
NM_000254.3(MTR):c.*921A>C rs886046227
NM_000254.3(MTR):c.1075+6T>G rs567527137
NM_000254.3(MTR):c.1101G>A (p.Pro367=) rs763018049
NM_000254.3(MTR):c.1232A>C (p.Gln411Pro) rs886046219
NM_000254.3(MTR):c.2044-11del rs371884645
NM_000254.3(MTR):c.2405+8A>G rs886046221
NM_000254.3(MTR):c.2593A>G (p.Lys865Glu) rs1665342241
NM_000254.3(MTR):c.2859C>G (p.Pro953=) rs1666184303
NM_000254.3(MTR):c.3144A>T (p.Ala1048=) rs2229276
NM_000254.3(MTR):c.3175A>G (p.Ile1059Val) rs1666305319
NM_000254.3(MTR):c.409+7A>C rs886046218
NM_000254.3(MTR):c.450T>C (p.Asn150=) rs1661234823
NM_000254.3(MTR):c.742G>A (p.Val248Met) rs142648132
NM_000254.3(MTR):c.865+1G>T rs1558288402

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