ClinVar Miner

List of variants in gene TGM1 reported as pathogenic for not provided

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Gene type:
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Total variants: 143
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HGVS dbSNP gnomAD frequency
NM_000359.3(TGM1):c.919C>G (p.Arg307Gly) rs121918731 0.00029
NM_000359.3(TGM1):c.877-2A>G rs142634031 0.00027
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu) rs143473912 0.00021
NM_000359.3(TGM1):c.1135G>C (p.Val379Leu) rs121918720 0.00011
NM_000359.3(TGM1):c.427C>T (p.Arg143Cys) rs531650682 0.00009
NM_000359.3(TGM1):c.420A>G (p.Ile140Met) rs139208806 0.00008
NM_000359.3(TGM1):c.376C>T (p.Arg126Cys) rs397514524 0.00006
NM_000359.3(TGM1):c.1631A>G (p.Tyr544Cys) rs1044429462 0.00004
NM_000359.3(TGM1):c.377G>A (p.Arg126His) rs200491579 0.00004
NM_000359.3(TGM1):c.425G>A (p.Arg142His) rs121918718 0.00004
NM_000359.3(TGM1):c.876+2T>C rs151054393 0.00004
NM_000359.3(TGM1):c.1469A>G (p.Asp490Gly) rs121918724 0.00003
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln) rs121918717 0.00003
NM_000359.3(TGM1):c.1223_1227del (p.Asp408fs) rs398122905 0.00002
NM_000359.3(TGM1):c.160C>T (p.Arg54Ter) rs140000324 0.00002
NM_000359.3(TGM1):c.232C>T (p.Arg78Ter) rs760429286 0.00002
NM_000359.3(TGM1):c.316C>T (p.Arg106Ter) rs773303931 0.00002
NM_000359.3(TGM1):c.832G>A (p.Gly278Arg) rs121918725 0.00002
NM_000359.3(TGM1):c.857G>A (p.Arg286Gln) rs121918727 0.00002
NM_000359.3(TGM1):c.967C>T (p.Arg323Trp) rs771820315 0.00002
NM_000359.3(TGM1):c.1042C>T (p.Arg348Ter) rs1296165092 0.00001
NM_000359.3(TGM1):c.1094A>G (p.Tyr365Cys) rs756732717 0.00001
NM_000359.3(TGM1):c.1186C>T (p.Arg396Cys) rs543521135 0.00001
NM_000359.3(TGM1):c.1417G>A (p.Gly473Ser) rs904122716 0.00001
NM_000359.3(TGM1):c.1420C>T (p.Pro474Ser) rs1202280089 0.00001
NM_000359.3(TGM1):c.1552del (p.Val518fs) rs1294460452 0.00001
NM_000359.3(TGM1):c.1744C>T (p.Gln582Ter) rs397514522 0.00001
NM_000359.3(TGM1):c.1774C>T (p.Gln592Ter) rs2040737996 0.00001
NM_000359.3(TGM1):c.184G>T (p.Gly62Ter) rs886041950 0.00001
NM_000359.3(TGM1):c.2059C>T (p.Arg687Cys) rs147516124 0.00001
NM_000359.3(TGM1):c.2278C>T (p.Arg760Ter) rs398122904 0.00001
NM_000359.3(TGM1):c.2290C>T (p.Arg764Cys) rs201853046 0.00001
NM_000359.3(TGM1):c.379C>T (p.Arg127Ter) rs886041250 0.00001
NM_000359.3(TGM1):c.401A>G (p.Tyr134Cys) rs147916609 0.00001
NM_000359.3(TGM1):c.424C>T (p.Arg142Cys) rs121918716 0.00001
NM_000359.3(TGM1):c.428G>A (p.Arg143His) rs121918719 0.00001
NM_000359.3(TGM1):c.430G>A (p.Gly144Arg) rs778635368 0.00001
NM_000359.3(TGM1):c.579G>A (p.Trp193Ter) rs199678720 0.00001
NM_000359.3(TGM1):c.652G>A (p.Gly218Ser) rs121918732 0.00001
NM_000359.3(TGM1):c.704T>A (p.Leu235Ter) rs1199770893 0.00001
NM_000359.3(TGM1):c.788G>A (p.Trp263Ter) rs367699137 0.00001
NM_000359.3(TGM1):c.790C>T (p.Arg264Trp) rs201868387 0.00001
NM_000359.3(TGM1):c.791G>A (p.Arg264Gln) rs781006633 0.00001
NM_000359.3(TGM1):c.871G>A (p.Gly291Ser) rs1437822062 0.00001
NM_000359.3(TGM1):c.872G>A (p.Gly291Asp) rs780990272 0.00001
NM_000359.3(TGM1):c.943C>T (p.Arg315Cys) rs397514525 0.00001
NC_000014.8:g.(?_24723348)_(24725293_?)dup
NM_000359.3(TGM1):c.1054C>G (p.Pro352Ala) rs1594571148
NM_000359.3(TGM1):c.1074C>G (p.Ser358Arg) rs779287673
NM_000359.3(TGM1):c.1082T>C (p.Ile361Thr) rs1057517837
NM_000359.3(TGM1):c.1126C>T (p.Gln376Ter)
NM_000359.3(TGM1):c.1131_1134dup (p.Val379fs)
NM_000359.3(TGM1):c.1147G>A (p.Val383Met) rs121918722
NM_000359.3(TGM1):c.1159+1G>C
NM_000359.3(TGM1):c.1160-2A>C
NM_000359.3(TGM1):c.1160-2_1160-1del rs1555306117
NM_000359.3(TGM1):c.1166G>A (p.Arg389His) rs121918723
NM_000359.3(TGM1):c.1166G>C (p.Arg389Pro) rs121918723
NM_000359.3(TGM1):c.1187G>A (p.Arg396His) rs121918721
NM_000359.3(TGM1):c.1187G>T (p.Arg396Leu) rs121918721
NM_000359.3(TGM1):c.1244del (p.Ile415fs)
NM_000359.3(TGM1):c.1264A>T (p.Lys422Ter) rs563305936
NM_000359.3(TGM1):c.1298G>A (p.Trp433Ter)
NM_000359.3(TGM1):c.1313G>A (p.Trp438Ter) rs1555306089
NM_000359.3(TGM1):c.131G>A (p.Trp44Ter) rs1566381457
NM_000359.3(TGM1):c.132G>A (p.Trp44Ter) rs886039654
NM_000359.3(TGM1):c.1331dup (p.Arg445fs) rs398122903
NM_000359.3(TGM1):c.1335_1344del (p.Arg445fs) rs2139023246
NM_000359.3(TGM1):c.1409del (p.Phe470fs) rs1479881544
NM_000359.3(TGM1):c.1417G>C (p.Gly473Arg)
NM_000359.3(TGM1):c.1430_1431del (p.Val477fs)
NM_000359.3(TGM1):c.1437dup (p.Ile480fs) rs1594568541
NM_000359.3(TGM1):c.1438A>T (p.Ile480Phe) rs377119683
NM_000359.3(TGM1):c.1468G>A (p.Asp490Asn)
NM_000359.3(TGM1):c.1491G>A (p.Glu497=) rs1199404507
NM_000359.3(TGM1):c.1570G>A (p.Gly524Ser) rs765914927
NM_000359.3(TGM1):c.1570_1596del (p.Gly524_Ile532del)
NM_000359.3(TGM1):c.1686_1695del (p.His563fs)
NM_000359.3(TGM1):c.1721dup (p.Ser575fs) rs2139019590
NM_000359.3(TGM1):c.1750G>T (p.Glu584Ter) rs533959758
NM_000359.3(TGM1):c.1802del (p.Ile601fs)
NM_000359.3(TGM1):c.182G>A (p.Trp61Ter)
NM_000359.3(TGM1):c.185del (p.Gly62fs)
NM_000359.3(TGM1):c.1877del (p.Gly626fs) rs2139019336
NM_000359.3(TGM1):c.1879_1883dup (p.Phe629fs)
NM_000359.3(TGM1):c.1947_1948dup (p.Val650fs) rs2139019079
NM_000359.3(TGM1):c.1956C>A (p.Tyr652Ter) rs1380808560
NM_000359.3(TGM1):c.196_197insGT (p.Ser66fs) rs2139028390
NM_000359.3(TGM1):c.1984C>T (p.Gln662Ter) rs1555305725
NM_000359.3(TGM1):c.2060G>A (p.Arg687His) rs2139018911
NM_000359.3(TGM1):c.2090T>G (p.Leu697Ter) rs747781875
NM_000359.3(TGM1):c.2090dup (p.Leu697fs)
NM_000359.3(TGM1):c.2095G>T (p.Gly699Ter) rs984394322
NM_000359.3(TGM1):c.211C>T (p.Arg71Ter) rs2040818118
NM_000359.3(TGM1):c.2149del (p.Leu717fs)
NM_000359.3(TGM1):c.221_222dup (p.Ser75fs)
NM_000359.3(TGM1):c.2226-2_2226-1dup rs2139013779
NM_000359.3(TGM1):c.281del (p.Gly94fs)
NM_000359.3(TGM1):c.327del (p.Met109fs) rs1405595340
NM_000359.3(TGM1):c.35G>A (p.Trp12Ter)
NM_000359.3(TGM1):c.391_408del (p.Thr131_Tyr136del)
NM_000359.3(TGM1):c.395_398dup (p.Tyr134fs) rs2139027728
NM_000359.3(TGM1):c.398_407dup (p.Tyr136Ter) rs1057517836
NM_000359.3(TGM1):c.398del (p.Glu133fs)
NM_000359.3(TGM1):c.408_411dup (p.Glu138fs) rs2139027688
NM_000359.3(TGM1):c.427C>G (p.Arg143Gly) rs531650682
NM_000359.3(TGM1):c.430G>C (p.Gly144Arg) rs778635368
NM_000359.3(TGM1):c.443del (p.His148fs)
NM_000359.3(TGM1):c.455del (p.Leu152fs) rs2139027584
NM_000359.3(TGM1):c.488del (p.Ile163fs)
NM_000359.3(TGM1):c.508G>T (p.Gly170Ter) rs1298543276
NM_000359.3(TGM1):c.519del (p.Glu174fs)
NM_000359.3(TGM1):c.566del (p.Gly189fs)
NM_000359.3(TGM1):c.566dup (p.Ser190fs) rs1211601030
NM_000359.3(TGM1):c.572_594dup (p.Lys199fs)
NM_000359.3(TGM1):c.578G>A (p.Trp193Ter)
NM_000359.3(TGM1):c.586C>T (p.Gln196Ter) rs1566380103
NM_000359.3(TGM1):c.607C>T (p.Gln203Ter) rs201167101
NM_000359.3(TGM1):c.614del (p.Leu205fs) rs2139026230
NM_000359.3(TGM1):c.631del (p.Thr211fs)
NM_000359.3(TGM1):c.661C>T (p.Gln221Ter) rs2139026120
NM_000359.3(TGM1):c.679C>T (p.Gln227Ter) rs972054392
NM_000359.3(TGM1):c.694G>T (p.Glu232Ter)
NM_000359.3(TGM1):c.713del (p.Asp238fs)
NM_000359.3(TGM1):c.739_740del (p.Phe247fs) rs2139025952
NM_000359.3(TGM1):c.789G>A (p.Trp263Ter)
NM_000359.3(TGM1):c.799dup (p.Tyr267fs) rs2139025384
NM_000359.3(TGM1):c.802del (p.Val268fs) rs1322979131
NM_000359.3(TGM1):c.832G>C (p.Gly278Arg)
NM_000359.3(TGM1):c.833G>A (p.Gly278Glu)
NM_000359.3(TGM1):c.834del (p.Thr279fs)
NM_000359.3(TGM1):c.844C>T (p.Gln282Ter) rs2139025289
NM_000359.3(TGM1):c.847_876del (p.Ile283_Gln292del)
NM_000359.3(TGM1):c.877-2A>C rs142634031
NM_000359.3(TGM1):c.882_888del (p.Asp294fs) rs1594571770
NM_000359.3(TGM1):c.890del (p.Val297fs) rs2139025081
NM_000359.3(TGM1):c.892del (p.Leu298fs) rs2040791482
NM_000359.3(TGM1):c.919C>T (p.Arg307Trp) rs121918731
NM_000359.3(TGM1):c.932dup (p.Tyr312fs) rs2139024981
NM_000359.3(TGM1):c.944G>A (p.Arg315His) rs143473912
NM_000359.3(TGM1):c.967C>G (p.Arg323Gly)
NM_000359.3(TGM1):c.984+1G>A rs749160734
NM_000359.3(TGM1):c.999_1008del (p.Asp333fs)

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