ClinVar Miner

List of variants in gene MTM1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 146
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HGVS dbSNP gnomAD frequency
NM_000252.3(MTM1):c.1260+3G>A rs222410 0.58566
NM_000252.3(MTM1):c.1054-201A>T rs222408 0.29752
NM_000252.3(MTM1):c.1054-193A>G rs222409 0.27851
NM_000252.3(MTM1):c.-10-328A>G rs2138413 0.26655
NM_000252.3(MTM1):c.867+180A>C rs222368 0.15351
NM_000252.3(MTM1):c.528+70G>A rs16995740 0.12756
NM_000252.3(MTM1):c.232-147G>C rs10521888 0.12583
NM_000252.3(MTM1):c.342+106C>G rs222394 0.03885
NM_000252.3(MTM1):c.232-28C>T rs73620649 0.03576
NM_000252.3(MTM1):c.1353+229A>G rs138203673 0.02531
NM_000252.3(MTM1):c.1260+240A>G rs147799230 0.01980
NM_000252.3(MTM1):c.1260+134C>T rs144266984 0.01748
NM_000252.3(MTM1):c.343-100A>G rs222389 0.01524
NM_000252.3(MTM1):c.1353+262C>T rs111951773 0.01403
NM_000252.3(MTM1):c.1053+105A>C rs140153689 0.01044
NM_000252.3(MTM1):c.528+1035G>A rs140625961 0.01025
NM_000252.3(MTM1):c.-10-248C>T rs111468862 0.00734
NM_000252.3(MTM1):c.343-158A>G rs191242850 0.00706
NM_000252.3(MTM1):c.63+252C>T rs189339138 0.00636
NM_000252.3(MTM1):c.*182C>T rs222419 0.00587
NM_000252.3(MTM1):c.445-33C>T rs143521383 0.00507
NM_000252.3(MTM1):c.64-198A>G rs188412335 0.00482
NM_000252.3(MTM1):c.529-324G>A rs782664286 0.00390
NM_000252.3(MTM1):c.529-76G>A rs782310438 0.00367
NM_000252.3(MTM1):c.232-54A>T rs143312552 0.00356
NM_000252.3(MTM1):c.64-14T>C rs184956219 0.00340
NM_000252.3(MTM1):c.136+9C>T rs191553188 0.00337
NM_000252.3(MTM1):c.64-50A>T rs201279564 0.00136
NM_000252.3(MTM1):c.339T>C (p.Cys113=) rs147644722 0.00111
NM_000252.3(MTM1):c.1053+23T>C rs180775341 0.00057
NM_000252.3(MTM1):c.867+13A>C rs368954714 0.00051
NM_000252.3(MTM1):c.1052A>G (p.Lys351Arg) rs150430628 0.00022
NM_000252.3(MTM1):c.176T>C (p.Ile59Thr) rs782217375 0.00011
NM_000252.3(MTM1):c.231+30C>A rs368915645 0.00010
NM_000252.3(MTM1):c.422C>T (p.Ala141Val) rs140642341 0.00007
NM_000252.3(MTM1):c.481G>A (p.Val161Met) rs782744530 0.00006
NM_000252.3(MTM1):c.700G>C (p.Glu234Gln) rs372053838 0.00006
NM_000252.3(MTM1):c.1376A>G (p.Asn459Ser) rs587783785 0.00005
NM_000252.3(MTM1):c.38C>T (p.Ser13Phe) rs144473998 0.00005
NM_000252.3(MTM1):c.445-17T>G rs73250563 0.00003
NM_000252.3(MTM1):c.1724A>G (p.Gln575Arg) rs1347335331 0.00002
NM_000252.3(MTM1):c.175A>G (p.Ile59Val) rs782451760 0.00002
NM_000252.3(MTM1):c.1080A>G (p.Val360=) rs782202285 0.00001
NM_000252.3(MTM1):c.109C>T (p.Arg37Ter) rs587783753 0.00001
NM_000252.3(MTM1):c.1213A>G (p.Ile405Val) rs373788741 0.00001
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter) rs587783771 0.00001
NM_000252.3(MTM1):c.953G>A (p.Arg318Gln) rs782462553 0.00001
GRCh37/hg19 Xq28(chrX:149818189-149840068)x3
NC_000023.11:g.150657936T>A rs727504019
NM_000252.3(MTM1):c.-10-152= rs182630
NM_000252.3(MTM1):c.1040T>G (p.Leu347Ter) rs398123264
NM_000252.3(MTM1):c.1054-5G>C rs398123265
NM_000252.3(MTM1):c.1088_1089del (p.Lys363fs) rs587783752
NM_000252.3(MTM1):c.1107T>A (p.Ser369Arg) rs2148508637
NM_000252.3(MTM1):c.1109C>G (p.Ser370Ter) rs1557414505
NM_000252.3(MTM1):c.110G>A (p.Arg37Gln)
NM_000252.3(MTM1):c.1174A>T (p.Met392Leu)
NM_000252.3(MTM1):c.1210G>A (p.Glu404Lys) rs781933660
NM_000252.3(MTM1):c.1228G>T (p.Glu410Ter) rs17852824
NM_000252.3(MTM1):c.122A>G (p.Glu41Gly) rs398123266
NM_000252.3(MTM1):c.1234A>G (p.Ile412Val) rs587783765
NM_000252.3(MTM1):c.1244G>A (p.Gly415Glu) rs587783766
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln) rs587783772
NM_000252.3(MTM1):c.1262G>T (p.Arg421Leu) rs587783772
NM_000252.3(MTM1):c.1291G>A (p.Asp431Asn) rs886044782
NM_000252.3(MTM1):c.1297G>A (p.Asp433Asn) rs886044783
NM_000252.3(MTM1):c.1306_1310dup (p.Phe438fs) rs398123267
NM_000252.3(MTM1):c.1314dup (p.Leu439fs)
NM_000252.3(MTM1):c.1334T>C (p.Val445Ala)
NM_000252.3(MTM1):c.1338G>A (p.Trp446Ter)
NM_000252.3(MTM1):c.1340A>G (p.Gln447Arg)
NM_000252.3(MTM1):c.1357_1358del (p.Pro453fs) rs398123268
NM_000252.3(MTM1):c.136+172= rs222380
NM_000252.3(MTM1):c.1369G>A (p.Glu457Lys) rs398123269
NM_000252.3(MTM1):c.137-11T>A rs1557412659
NM_000252.3(MTM1):c.137-3T>G rs878853069
NM_000252.3(MTM1):c.1381C>T (p.Gln461Ter) rs782234944
NM_000252.3(MTM1):c.1389G>T (p.Leu463Phe)
NM_000252.3(MTM1):c.1415_1416del (p.Ser472fs) rs797044503
NM_000252.3(MTM1):c.141_144del rs587783791
NM_000252.3(MTM1):c.1420C>T (p.Arg474Ter) rs587783792
NM_000252.3(MTM1):c.142_143del (p.Glu48fs) rs398123270
NM_000252.3(MTM1):c.1444T>C (p.Cys482Arg)
NM_000252.3(MTM1):c.1447G>T (p.Glu483Ter) rs2148511944
NM_000252.3(MTM1):c.1465_1468del (p.Gln489fs) rs587783797
NM_000252.3(MTM1):c.1467+1G>A rs587783798
NM_000252.3(MTM1):c.1469A>G (p.Lys490Arg) rs781948606
NM_000252.3(MTM1):c.1475C>T (p.Thr492Ile)
NM_000252.3(MTM1):c.1509del (p.Asn503fs) rs587783802
NM_000252.3(MTM1):c.1537_1564delinsAACTGGA (p.Phe513_Leu522delinsAsnTrpIle) rs398123271
NM_000252.3(MTM1):c.1558C>T (p.Arg520Ter) rs587783805
NM_000252.3(MTM1):c.1601G>A (p.Trp534Ter)
NM_000252.3(MTM1):c.1611C>A (p.Tyr537Ter) rs886041657
NM_000252.3(MTM1):c.1644+1G>T rs398123272
NM_000252.3(MTM1):c.1644+3_1644+6del rs797044504
NM_000252.3(MTM1):c.1729G>T (p.Ala577Ser)
NM_000252.3(MTM1):c.197C>T (p.Thr66Ile) rs2148434107
NM_000252.3(MTM1):c.19del (p.Ser7fs) rs886044770
NM_000252.3(MTM1):c.205C>T (p.Arg69Cys) rs132630304
NM_000252.3(MTM1):c.231+1G>A rs587783810
NM_000252.3(MTM1):c.231+2771A>G
NM_000252.3(MTM1):c.232-16T>G rs2148455901
NM_000252.3(MTM1):c.271_272delinsAT (p.Ser91Met)
NM_000252.3(MTM1):c.342+3A>T rs2148456143
NM_000252.3(MTM1):c.342_342+4del rs797045717
NM_000252.3(MTM1):c.343-192C>T rs7884615
NM_000252.3(MTM1):c.402dup (p.Glu135Ter)
NM_000252.3(MTM1):c.410T>C (p.Leu137Pro) rs2148461766
NM_000252.3(MTM1):c.413C>T (p.Thr138Met)
NM_000252.3(MTM1):c.444+1G>A rs886044840
NM_000252.3(MTM1):c.469G>A (p.Glu157Lys) rs132630307
NM_000252.3(MTM1):c.469G>C (p.Glu157Gln)
NM_000252.3(MTM1):c.49G>T (p.Glu17Ter) rs886039522
NM_000252.3(MTM1):c.503A>G (p.Asn168Ser)
NM_000252.3(MTM1):c.503del (p.Asn168fs) rs1603185038
NM_000252.3(MTM1):c.509_528dup (p.Gly177fs)
NM_000252.3(MTM1):c.528+1G>A
NM_000252.3(MTM1):c.529-257C>G rs55824675
NM_000252.3(MTM1):c.533T>C (p.Leu178Ser) rs2148488364
NM_000252.3(MTM1):c.557C>T (p.Thr186Ile) rs587783836
NM_000252.3(MTM1):c.564TAA[1] (p.Asn189del) rs878853108
NM_000252.3(MTM1):c.566A>G (p.Asn189Ser) rs132630302
NM_000252.3(MTM1):c.575A>G (p.Tyr192Cys) rs587783838
NM_000252.3(MTM1):c.581T>C (p.Leu194Pro) rs2148488487
NM_000252.3(MTM1):c.593dup (p.Tyr198Ter) rs886041343
NM_000252.3(MTM1):c.595_599del (p.Pro199fs) rs398123273
NM_000252.3(MTM1):c.614C>T (p.Pro205Leu) rs587783841
NM_000252.3(MTM1):c.63+183dup rs1184716210
NM_000252.3(MTM1):c.679-150C>G rs113515087
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg) rs398123274
NM_000252.3(MTM1):c.70C>T (p.Arg24Ter) rs398123275
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys) rs132630305
NM_000252.3(MTM1):c.742G>A (p.Gly248Ser) rs368335697
NM_000252.3(MTM1):c.757C>T (p.Arg253Ter) rs587783854
NM_000252.3(MTM1):c.785A>C (p.Asp262Ala)
NM_000252.3(MTM1):c.799A>T (p.Thr267Ser)
NM_000252.3(MTM1):c.800C>T (p.Thr267Ile)
NM_000252.3(MTM1):c.814del (p.Ser272fs) rs1603192748
NM_000252.3(MTM1):c.836C>G (p.Ala279Gly)
NM_000252.3(MTM1):c.935A>G (p.His312Arg)
NM_000252.3(MTM1):c.949dup (p.Met317fs) rs797045722
NM_000252.3(MTM1):c.969del (p.Lys323_Val324insTer) rs587783865
NM_000252.3(MTM1):c.969dup (p.Val324fs) rs587783865
NM_000252.3(MTM1):c.971_972dup (p.Lys325Ter) rs2148497891
Single allele

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