ClinVar Miner

List of variants in gene MTM1 reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 290
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000252.3(MTM1):c.1260+3G>A rs222410 0.58566
NM_000252.3(MTM1):c.1353+229A>G rs138203673 0.02531
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.136+9C>T rs191553188 0.00337
NM_000252.3(MTM1):c.339T>C (p.Cys113=) rs147644722 0.00111
NM_000252.3(MTM1):c.867+13A>C rs368954714 0.00051
NM_000252.3(MTM1):c.582C>T (p.Leu194=) rs367912069 0.00029
NM_000252.3(MTM1):c.1052A>G (p.Lys351Arg) rs150430628 0.00022
NM_000252.3(MTM1):c.867+17A>G rs371239013 0.00017
NM_000252.3(MTM1):c.423G>A (p.Ala141=) rs377311110 0.00014
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.1455T>C (p.Ala485=) rs141358705 0.00006
NM_000252.3(MTM1):c.1729G>A (p.Ala577Thr) rs148195763 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.1793A>G (p.His598Arg) rs201373390 0.00005
NM_000252.3(MTM1):c.232-7A>G rs373045797 0.00005
NM_000252.3(MTM1):c.285A>G (p.Lys95=) rs1292849674 0.00005
NM_000252.3(MTM1):c.38C>T (p.Ser13Phe) rs144473998 0.00005
NM_000252.3(MTM1):c.546T>C (p.His182=) rs782217349 0.00005
NM_000252.3(MTM1):c.620G>A (p.Arg207His) rs187357952 0.00005
NM_000252.3(MTM1):c.1383A>G (p.Gln461=) rs782410861 0.00004
NM_000252.3(MTM1):c.1695C>T (p.Asp565=) rs140744506 0.00004
NM_000252.3(MTM1):c.230C>T (p.Thr77Met) rs782640338 0.00004
NM_000252.3(MTM1):c.66G>A (p.Thr22=) rs781793926 0.00004
NM_000252.3(MTM1):c.1629C>T (p.Pro543=) rs781856935 0.00003
NM_000252.3(MTM1):c.1779G>A (p.Ser593=) rs782375296 0.00003
NM_000252.3(MTM1):c.445-17T>G rs73250563 0.00003
NM_000252.3(MTM1):c.480C>T (p.Asn160=) rs782480422 0.00003
NM_000252.3(MTM1):c.508G>C (p.Val170Leu) rs782274835 0.00003
NM_000252.3(MTM1):c.64-9T>C rs189752798 0.00003
NM_000252.3(MTM1):c.1077A>G (p.Gln359=) rs1299457466 0.00002
NM_000252.3(MTM1):c.1560A>G (p.Arg520=) rs138946055 0.00002
NM_000252.3(MTM1):c.1692C>T (p.Arg564=) rs1557415136 0.00002
NM_000252.3(MTM1):c.1758A>G (p.Pro586=) rs1454805516 0.00002
NM_000252.3(MTM1):c.297G>A (p.Ala99=) rs781784303 0.00002
NM_000252.3(MTM1):c.51G>A (p.Glu17=) rs148455726 0.00002
NM_000252.3(MTM1):c.528+7T>C rs782460237 0.00002
NM_000252.3(MTM1):c.741C>T (p.Val247=) rs374360983 0.00002
NM_000252.3(MTM1):c.813T>C (p.Ile271=) rs1224173755 0.00002
NM_000252.3(MTM1):c.1008T>C (p.His336=) rs1557414128 0.00001
NM_000252.3(MTM1):c.1080A>G (p.Val360=) rs782202285 0.00001
NM_000252.3(MTM1):c.111A>G (p.Arg37=) rs2038979283 0.00001
NM_000252.3(MTM1):c.1131C>T (p.Asp377=) rs1557414507 0.00001
NM_000252.3(MTM1):c.1194G>A (p.Arg398=) rs1557414516 0.00001
NM_000252.3(MTM1):c.1213A>G (p.Ile405Val) rs373788741 0.00001
NM_000252.3(MTM1):c.1260+7A>T rs782771099 0.00001
NM_000252.3(MTM1):c.126A>G (p.Thr42=) rs782801257 0.00001
NM_000252.3(MTM1):c.1290C>T (p.Thr430=) rs374725419 0.00001
NM_000252.3(MTM1):c.1353+7A>C rs782203723 0.00001
NM_000252.3(MTM1):c.1354-6G>A rs1235590737 0.00001
NM_000252.3(MTM1):c.136+10T>G rs782382879 0.00001
NM_000252.3(MTM1):c.136+7A>T rs782025629 0.00001
NM_000252.3(MTM1):c.1454C>T (p.Ala485Val) rs782137551 0.00001
NM_000252.3(MTM1):c.1468-10C>T rs782174623 0.00001
NM_000252.3(MTM1):c.1678C>T (p.Leu560Phe) rs1557415135 0.00001
NM_000252.3(MTM1):c.1719A>G (p.Glu573=) rs1557415144 0.00001
NM_000252.3(MTM1):c.1740C>G (p.Ala580=) rs782365703 0.00001
NM_000252.3(MTM1):c.231+10A>G rs1231679121 0.00001
NM_000252.3(MTM1):c.272C>T (p.Ser91Leu) rs782148152 0.00001
NM_000252.3(MTM1):c.420C>T (p.Tyr140=) rs587783825 0.00001
NM_000252.3(MTM1):c.426T>C (p.Phe142=) rs1443261976 0.00001
NM_000252.3(MTM1):c.444+16C>G rs1057523163 0.00001
NM_000252.3(MTM1):c.447A>G (p.Pro149=) rs782149231 0.00001
NM_000252.3(MTM1):c.570G>A (p.Lys190=) rs782411810 0.00001
NM_000252.3(MTM1):c.603T>C (p.Leu201=) rs1557413854 0.00001
NM_000252.3(MTM1):c.681G>C (p.Val227=) rs1557413955 0.00001
NM_000252.3(MTM1):c.783C>T (p.Leu261=) rs187394611 0.00001
NM_000252.3(MTM1):c.788T>G (p.Val263Gly) rs782573475 0.00001
NM_000252.3(MTM1):c.867+8G>A rs782431909 0.00001
NM_000252.3(MTM1):c.868-9del rs1372652199 0.00001
NM_000252.3(MTM1):c.885T>C (p.Tyr295=) rs1017890631 0.00001
NM_000252.3(MTM1):c.909C>T (p.Asn303=) rs199984259 0.00001
NM_000252.3(MTM1):c.945T>C (p.His315=) rs376178048 0.00001
NM_000252.3(MTM1):c.954G>C (p.Arg318=) rs1557414126 0.00001
NM_000252.3(MTM1):c.102T>C (p.Ala34=)
NM_000252.3(MTM1):c.1047T>C (p.His349=)
NM_000252.3(MTM1):c.1053+14G>T
NM_000252.3(MTM1):c.1053+8T>C
NM_000252.3(MTM1):c.1054-18C>G
NM_000252.3(MTM1):c.1054-4T>C
NM_000252.3(MTM1):c.1054-5G>C rs398123265
NM_000252.3(MTM1):c.1054-6dup
NM_000252.3(MTM1):c.1054-9_1054-6del rs782691958
NM_000252.3(MTM1):c.1056C>T (p.Leu352=) rs1216921434
NM_000252.3(MTM1):c.1062G>A (p.Leu354=) rs1603204575
NM_000252.3(MTM1):c.1065A>G (p.Thr355=) rs1603204585
NM_000252.3(MTM1):c.1086C>T (p.Asp362=) rs2148508590
NM_000252.3(MTM1):c.1119G>A (p.Val373=) rs941979306
NM_000252.3(MTM1):c.1122T>C (p.His374=) rs2040150089
NM_000252.3(MTM1):c.1149T>C (p.Ala383=)
NM_000252.3(MTM1):c.1153C>T (p.Leu385=)
NM_000252.3(MTM1):c.1158A>G (p.Thr386=)
NM_000252.3(MTM1):c.1179G>A (p.Leu393=)
NM_000252.3(MTM1):c.1245A>G (p.Gly415=) rs2148508923
NM_000252.3(MTM1):c.1260+10C>T
NM_000252.3(MTM1):c.1260+19T>C
NM_000252.3(MTM1):c.1261-10A>C
NM_000252.3(MTM1):c.1261-15C>T
NM_000252.3(MTM1):c.1261-18C>G
NM_000252.3(MTM1):c.1261-21_1261-16del
NM_000252.3(MTM1):c.1269T>A (p.Gly423=)
NM_000252.3(MTM1):c.129A>T (p.Leu43=)
NM_000252.3(MTM1):c.1302T>C (p.Arg434=) rs2148510860
NM_000252.3(MTM1):c.1323T>C (p.Phe441=)
NM_000252.3(MTM1):c.1329T>C (p.Asp443=)
NM_000252.3(MTM1):c.1353+14G>A
NM_000252.3(MTM1):c.1353+9T>A
NM_000252.3(MTM1):c.1354-19_1354-16del
NM_000252.3(MTM1):c.136+11G>C
NM_000252.3(MTM1):c.136+14G>A
NM_000252.3(MTM1):c.136+172= rs222380
NM_000252.3(MTM1):c.137-11dup rs797045716
NM_000252.3(MTM1):c.137-18del
NM_000252.3(MTM1):c.1392T>C (p.Ile464=) rs2148511855
NM_000252.3(MTM1):c.1419C>T (p.Cys473=)
NM_000252.3(MTM1):c.1449A>G (p.Glu483=) rs2148511948
NM_000252.3(MTM1):c.1468-11TC[2] rs2148515446
NM_000252.3(MTM1):c.1468-12G>A
NM_000252.3(MTM1):c.1468-12G>C
NM_000252.3(MTM1):c.1468-12G>T
NM_000252.3(MTM1):c.1468-12_1468-11del
NM_000252.3(MTM1):c.1468-18_1468-13del
NM_000252.3(MTM1):c.1468-5T>C rs2148515462
NM_000252.3(MTM1):c.1468-8C>T rs1276451236
NM_000252.3(MTM1):c.147T>A (p.Val49=) rs2148434016
NM_000252.3(MTM1):c.1485T>A (p.Thr495=) rs2148515501
NM_000252.3(MTM1):c.1501C>T (p.Leu501=) rs2148515532
NM_000252.3(MTM1):c.1503G>C (p.Leu501=) rs2148515546
NM_000252.3(MTM1):c.1509C>T (p.Asn503=) rs1603208456
NM_000252.3(MTM1):c.1518A>G (p.Lys506=) rs2040257647
NM_000252.3(MTM1):c.1521A>G (p.Glu507=) rs2148515589
NM_000252.3(MTM1):c.153C>T (p.Tyr51=) rs2148434034
NM_000252.3(MTM1):c.1542T>C (p.Tyr514=)
NM_000252.3(MTM1):c.1551A>G (p.Glu517=) rs2040258177
NM_000252.3(MTM1):c.1558C>A (p.Arg520=) rs587783805
NM_000252.3(MTM1):c.1566A>G (p.Leu522=) rs2148515668
NM_000252.3(MTM1):c.1575T>A (p.Val525=)
NM_000252.3(MTM1):c.1578C>T (p.Ala526=) rs1603208507
NM_000252.3(MTM1):c.1591T>C (p.Leu531=) rs2040258987
NM_000252.3(MTM1):c.1596A>G (p.Glu532=)
NM_000252.3(MTM1):c.1599C>T (p.Leu533=) rs2148515718
NM_000252.3(MTM1):c.15A>C (p.Ser5=) rs2148425501
NM_000252.3(MTM1):c.1608T>C (p.Asn536=)
NM_000252.3(MTM1):c.1632G>A (p.Arg544=)
NM_000252.3(MTM1):c.1644+19T>G
NM_000252.3(MTM1):c.1645-13T>C
NM_000252.3(MTM1):c.1645-14_1645-13del
NM_000252.3(MTM1):c.1645-17T>A
NM_000252.3(MTM1):c.1645-17T>G
NM_000252.3(MTM1):c.1645-19A>C
NM_000252.3(MTM1):c.1650G>A (p.Pro550=) rs2040394486
NM_000252.3(MTM1):c.1662G>A (p.Glu554=) rs1603214698
NM_000252.3(MTM1):c.1665G>A (p.Gln555=)
NM_000252.3(MTM1):c.1680C>G (p.Leu560=)
NM_000252.3(MTM1):c.1683A>G (p.Leu561=) rs2148525035
NM_000252.3(MTM1):c.16A>G (p.Thr6Ala)
NM_000252.3(MTM1):c.1713T>C (p.Leu571=) rs1557415142
NM_000252.3(MTM1):c.171C>A (p.Gly57=) rs782505553
NM_000252.3(MTM1):c.1722G>A (p.Leu574=) rs781846889
NM_000252.3(MTM1):c.1728C>A (p.Leu576=)
NM_000252.3(MTM1):c.1728C>T (p.Leu576=) rs375031903
NM_000252.3(MTM1):c.1755C>A (p.Pro585=)
NM_000252.3(MTM1):c.1756C>T (p.Pro586Ser)
NM_000252.3(MTM1):c.1761T>G (p.Thr587=) rs2148525231
NM_000252.3(MTM1):c.1766C>G (p.Pro589Arg)
NM_000252.3(MTM1):c.1779G>T (p.Ser593=) rs782375296
NM_000252.3(MTM1):c.1791C>G (p.Pro597=)
NM_000252.3(MTM1):c.180G>A (p.Lys60=)
NM_000252.3(MTM1):c.1811del (p.Phe603_Ter604insTer)
NM_000252.3(MTM1):c.18T>A (p.Thr6=)
NM_000252.3(MTM1):c.214T>C (p.Leu72=)
NM_000252.3(MTM1):c.21T>G (p.Ser7=)
NM_000252.3(MTM1):c.231+8G>A rs2148434174
NM_000252.3(MTM1):c.232-11G>T
NM_000252.3(MTM1):c.232-8C>T rs782389461
NM_000252.3(MTM1):c.273G>A (p.Ser91=) rs1447559040
NM_000252.3(MTM1):c.27T>C (p.Tyr9=)
NM_000252.3(MTM1):c.294C>T (p.Gly98=)
NM_000252.3(MTM1):c.336T>A (p.Thr112=)
NM_000252.3(MTM1):c.342+12G>A
NM_000252.3(MTM1):c.342+17T>C
NM_000252.3(MTM1):c.342+19T>C
NM_000252.3(MTM1):c.342+19_342+22del
NM_000252.3(MTM1):c.342+9T>C rs2148456159
NM_000252.3(MTM1):c.342+9T>G
NM_000252.3(MTM1):c.343-12C>T rs2039433672
NM_000252.3(MTM1):c.343-16T>C
NM_000252.3(MTM1):c.343-192C>T rs7884615
NM_000252.3(MTM1):c.345C>T (p.Asp115=) rs2148461700
NM_000252.3(MTM1):c.369G>A (p.Leu123=)
NM_000252.3(MTM1):c.375G>A (p.Gln125=)
NM_000252.3(MTM1):c.387C>T (p.Ser129=)
NM_000252.3(MTM1):c.396T>C (p.Asp132=)
NM_000252.3(MTM1):c.405G>A (p.Glu135=) rs1557413212
NM_000252.3(MTM1):c.408C>T (p.Ile136=)
NM_000252.3(MTM1):c.411C>T (p.Leu137=)
NM_000252.3(MTM1):c.432G>T (p.Leu144=) rs2148461815
NM_000252.3(MTM1):c.444+10A>G rs782479470
NM_000252.3(MTM1):c.444+12T>C rs2148461835
NM_000252.3(MTM1):c.444+15T>C
NM_000252.3(MTM1):c.444+17T>C
NM_000252.3(MTM1):c.444+19C>G
NM_000252.3(MTM1):c.444+19_444+21del
NM_000252.3(MTM1):c.445-20T>C
NM_000252.3(MTM1):c.450A>G (p.Leu150=)
NM_000252.3(MTM1):c.456A>G (p.Ala152=)
NM_000252.3(MTM1):c.465T>C (p.Asn155=)
NM_000252.3(MTM1):c.466G>A (p.Glu156Lys)
NM_000252.3(MTM1):c.483G>A (p.Val161=)
NM_000252.3(MTM1):c.495A>G (p.Thr165=)
NM_000252.3(MTM1):c.501C>T (p.Tyr167=) rs2039803075
NM_000252.3(MTM1):c.504T>C (p.Asn168=)
NM_000252.3(MTM1):c.519C>T (p.Tyr173=) rs2148485835
NM_000252.3(MTM1):c.528+10dup
NM_000252.3(MTM1):c.528+13A>G
NM_000252.3(MTM1):c.528+13A>T
NM_000252.3(MTM1):c.528+17T>A rs2148485858
NM_000252.3(MTM1):c.528+18A>G
NM_000252.3(MTM1):c.528+18_528+22dup
NM_000252.3(MTM1):c.528+6A>G rs1057521934
NM_000252.3(MTM1):c.529-5C>T
NM_000252.3(MTM1):c.576T>C (p.Tyr192=) rs2148488477
NM_000252.3(MTM1):c.600T>G (p.Ala200=)
NM_000252.3(MTM1):c.619C>T (p.Arg207Cys) rs1470686963
NM_000252.3(MTM1):c.624C>T (p.Ala208=)
NM_000252.3(MTM1):c.63+16A>G
NM_000252.3(MTM1):c.63+183dup rs1184716210
NM_000252.3(MTM1):c.63+21del
NM_000252.3(MTM1):c.63+7del rs782222093
NM_000252.3(MTM1):c.636C>T (p.Asp212=)
NM_000252.3(MTM1):c.64-7T>C rs1603123969
NM_000252.3(MTM1):c.664C>A (p.Arg222=) rs587783847
NM_000252.3(MTM1):c.675T>C (p.Ile225=)
NM_000252.3(MTM1):c.678+18C>T
NM_000252.3(MTM1):c.678+19G>A rs1215955664
NM_000252.3(MTM1):c.678+7A>G rs2148488635
NM_000252.3(MTM1):c.678+9T>C
NM_000252.3(MTM1):c.678+9T>G
NM_000252.3(MTM1):c.679-10T>G rs782314713
NM_000252.3(MTM1):c.679-150C>G rs113515087
NM_000252.3(MTM1):c.679-19C>G
NM_000252.3(MTM1):c.679-22_679-17del
NM_000252.3(MTM1):c.684G>A (p.Leu228=) rs587783852
NM_000252.3(MTM1):c.6T>C (p.Ala2=)
NM_000252.3(MTM1):c.6T>G (p.Ala2=)
NM_000252.3(MTM1):c.711G>A (p.Thr237=) rs1162408107
NM_000252.3(MTM1):c.717T>C (p.Ile239=) rs2148493140
NM_000252.3(MTM1):c.720G>A (p.Val240=) rs2148493142
NM_000252.3(MTM1):c.726C>T (p.Cys242=) rs2039919467
NM_000252.3(MTM1):c.742G>A (p.Gly248Ser) rs368335697
NM_000252.3(MTM1):c.745A>G (p.Met249Val)
NM_000252.3(MTM1):c.753G>A (p.Gly251=) rs1603192655
NM_000252.3(MTM1):c.774G>A (p.Glu258=) rs2148493209
NM_000252.3(MTM1):c.784G>A (p.Asp262Asn)
NM_000252.3(MTM1):c.787G>A (p.Val263Ile)
NM_000252.3(MTM1):c.810A>G (p.Gln270=) rs782474609
NM_000252.3(MTM1):c.816T>G (p.Ser272=) rs2148493297
NM_000252.3(MTM1):c.825C>T (p.Thr275=) rs2148493322
NM_000252.3(MTM1):c.834T>C (p.Asp278=)
NM_000252.3(MTM1):c.843C>T (p.Pro281=)
NM_000252.3(MTM1):c.846C>T (p.Ser282=) rs375301020
NM_000252.3(MTM1):c.867+13_867+15del
NM_000252.3(MTM1):c.868-11T>C
NM_000252.3(MTM1):c.868-14A>G
NM_000252.3(MTM1):c.868-9_868-7del rs2148497680
NM_000252.3(MTM1):c.87A>C (p.Arg29=)
NM_000252.3(MTM1):c.894T>C (p.Asp298=)
NM_000252.3(MTM1):c.900A>G (p.Ala300=)
NM_000252.3(MTM1):c.912C>T (p.Ala304=) rs782504569
NM_000252.3(MTM1):c.930C>T (p.Asp310=) rs1603196546
NM_000252.3(MTM1):c.972G>A (p.Val324=)
NM_000252.3(MTM1):c.990T>C (p.Pro330=)
NM_000252.3(MTM1):c.996A>G (p.Val332=)
NM_000252.3(MTM1):c.99G>A (p.Glu33=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.