ClinVar Miner

List of variants in gene TGM1 reported by GeneDx

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Gene type:
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Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_000359.3(TGM1):c.508+439T>C rs2748516 0.92219
NM_000359.3(TGM1):c.509-196T>G rs7151201 0.15537
NM_000359.3(TGM1):c.1928-47T>G rs8193032 0.13279
NM_000359.3(TGM1):c.2088+72G>A rs8193033 0.10735
NM_000359.3(TGM1):c.1403-273C>G rs3783442 0.05795
NM_000359.3(TGM1):c.726G>A (p.Glu242=) rs35755034 0.04892
NM_000359.3(TGM1):c.1491+54C>T rs3742506 0.04003
NM_000359.3(TGM1):c.1492-51A>G rs2273303 0.02960
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) rs35312232 0.01146
NM_000359.3(TGM1):c.1559A>G (p.Glu520Gly) rs142404759 0.00555
NM_000359.3(TGM1):c.1645+5C>A rs187575724 0.00468
NM_000359.3(TGM1):c.125C>A (p.Ser42Tyr) rs41295338 0.00428
NM_000359.3(TGM1):c.1113C>T (p.Ser371=) rs61747601 0.00421
NM_000359.3(TGM1):c.2160C>T (p.Thr720=) rs139387079 0.00040
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.281G>A (p.Gly94Asp) rs121918729 0.00025
NM_000359.3(TGM1):c.167C>T (p.Ala56Val) rs147479810 0.00024
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu) rs143473912 0.00021
NM_000359.3(TGM1):c.2221G>A (p.Val741Ile) rs141864003 0.00015
NM_000359.3(TGM1):c.1135G>C (p.Val379Leu) rs121918720 0.00011
NM_000359.3(TGM1):c.923G>A (p.Arg308Gln) rs201328637 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.550C>T (p.Pro184Ser) rs200517023 0.00006
NM_000359.3(TGM1):c.377G>A (p.Arg126His) rs200491579 0.00004
NM_000359.3(TGM1):c.418A>G (p.Ile140Val) rs149923908 0.00004
NM_000359.3(TGM1):c.876+2T>C rs151054393 0.00004
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.2279G>A (p.Arg760Gln) rs746278667 0.00002
NM_000359.3(TGM1):c.232C>T (p.Arg78Ter) rs760429286 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.1025G>T (p.Trp342Leu) rs1490454727 0.00001
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.1552del (p.Val518fs) rs1294460452 0.00001
NM_000359.3(TGM1):c.184G>T (p.Gly62Ter) rs886041950 0.00001
NM_000359.3(TGM1):c.2185G>A (p.Glu729Lys) rs745826502 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.652G>A (p.Gly218Ser) rs121918732 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.871G>A (p.Gly291Ser) rs1437822062 0.00001
NM_000359.3(TGM1):c.872G>A (p.Gly291Asp) rs780990272 0.00001
NM_000359.3(TGM1):c.*96GGGGAGTCCAGGGCTCCCGGAG[1] rs41294726
NM_000359.3(TGM1):c.1031G>C (p.Gly344Ala)
NM_000359.3(TGM1):c.1054C>G (p.Pro352Ala) rs1594571148
NM_000359.3(TGM1):c.1055C>T (p.Pro352Leu) rs1085308001
NM_000359.3(TGM1):c.1082T>C (p.Ile361Thr) rs1057517837
NM_000359.3(TGM1):c.1088T>C (p.Leu363Pro)
NM_000359.3(TGM1):c.1146C>A (p.Gly382=) rs1126432
NM_000359.3(TGM1):c.1166G>A (p.Arg389His) rs121918723
NM_000359.3(TGM1):c.1187G>T (p.Arg396Leu) rs121918721
NM_000359.3(TGM1):c.1261A>G (p.Met421Val) rs752670603
NM_000359.3(TGM1):c.1264A>T (p.Lys422Ter) rs563305936
NM_000359.3(TGM1):c.1267C>A (p.Pro423Thr)
NM_000359.3(TGM1):c.1303T>C (p.Phe435Leu) rs754922174
NM_000359.3(TGM1):c.132G>A (p.Trp44Ter) rs886039654
NM_000359.3(TGM1):c.1407_1416delinsGCTCTGT (p.Ile469_Cys471delinsMetLeu) rs1064794422
NM_000359.3(TGM1):c.1437dup (p.Ile480fs) rs1594568541
NM_000359.3(TGM1):c.1661G>T (p.Arg554Leu)
NM_000359.3(TGM1):c.2090T>G (p.Leu697Ter) rs747781875
NM_000359.3(TGM1):c.2316C>A (p.Ser772Arg)
NM_000359.3(TGM1):c.320-41T>A rs2854996
NM_000359.3(TGM1):c.398_407dup (p.Tyr136Ter) rs1057517836
NM_000359.3(TGM1):c.427C>G (p.Arg143Gly) rs531650682
NM_000359.3(TGM1):c.450CCT[2] (p.Leu153del) rs746008257
NM_000359.3(TGM1):c.586C>T (p.Gln196Ter) rs1566380103
NM_000359.3(TGM1):c.802del (p.Val268fs) rs1322979131
NM_000359.3(TGM1):c.817G>A (p.Gly273Arg) rs1555306238
NM_000359.3(TGM1):c.882_888del (p.Asp294fs) rs1594571770
NM_000359.3(TGM1):c.944G>A (p.Arg315His) rs143473912

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