ClinVar Miner

List of variants in gene TGM1 reported as pathogenic by OMIM

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) rs35312232 0.01146
NM_000359.3(TGM1):c.125C>A (p.Ser42Tyr) rs41295338 0.00428
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.944G>T (p.Arg315Leu) rs143473912 0.00021
NM_000359.3(TGM1):c.1135G>C (p.Val379Leu) rs121918720 0.00011
NM_000359.3(TGM1):c.376C>T (p.Arg126Cys) rs397514524 0.00006
NM_000359.3(TGM1):c.425G>A (p.Arg142His) rs121918718 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.832G>A (p.Gly278Arg) rs121918725 0.00002
NM_000359.3(TGM1):c.857G>A (p.Arg286Gln) rs121918727 0.00002
NM_000359.3(TGM1):c.1075G>A (p.Val359Met) rs202037016 0.00001
NM_000359.3(TGM1):c.1744C>T (p.Gln582Ter) rs397514522 0.00001
NM_000359.3(TGM1):c.2278C>T (p.Arg760Ter) rs398122904 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.652G>A (p.Gly218Ser) rs121918732 0.00001
NM_000359.3(TGM1):c.943C>T (p.Arg315Cys) rs397514525 0.00001
NM_000359.3(TGM1):c.1147G>A (p.Val383Met) rs121918722
NM_000359.3(TGM1):c.1166G>A (p.Arg389His) rs121918723
NM_000359.3(TGM1):c.1175G>A (p.Gly392Asp) rs121918726
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.1297del (p.Trp433fs) rs2139023508
NM_000359.3(TGM1):c.1304_1308del (p.Phe435fs) rs398122900
NM_000359.3(TGM1):c.1331dup (p.Arg445fs) rs398122903
NM_000359.3(TGM1):c.1923_1927+2del rs398122902
NM_000359.3(TGM1):c.2114del (p.Gln705fs) rs2139018490
NM_000359.3(TGM1):c.305A>T (p.Asp102Val) rs398122901
NM_000359.3(TGM1):c.425G>C (p.Arg142Pro) rs121918718
NM_000359.3(TGM1):c.479C>G (p.Ser160Cys) rs121918728
NM_000359.3(TGM1):c.614T>A (p.Leu205Gln) rs878853259
NM_000359.3(TGM1):c.826T>A (p.Tyr276Asn) rs397514523
NM_000359.3(TGM1):c.866A>C (p.Asn289Thr) rs121918730
NM_000359.3(TGM1):c.919C>T (p.Arg307Trp) rs121918731
NM_000359.3(TGM1):c.944G>A (p.Arg315His) rs143473912
TGM1, -86C-T

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