ClinVar Miner

List of variants in gene TGM1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 12
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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.1559A>G (p.Glu520Gly) rs142404759 0.00555
NM_000359.3(TGM1):c.168G>A (p.Ala56=) rs79251149 0.00439
NM_000359.3(TGM1):c.125C>A (p.Ser42Tyr) rs41295338 0.00428
NM_000359.3(TGM1):c.1762G>A (p.Ala588Thr) rs146728175 0.00043
NM_000359.3(TGM1):c.1924G>C (p.Ala642Pro) rs199735949 0.00032
NM_000359.3(TGM1):c.919C>G (p.Arg307Gly) rs121918731 0.00029
NM_000359.3(TGM1):c.297A>G (p.Ala99=) rs41295340 0.00010
NM_000359.3(TGM1):c.1042C>T (p.Arg348Ter) rs1296165092 0.00001
NM_000359.3(TGM1):c.792G>T (p.Arg264=) rs532184407 0.00001
NM_000359.3(TGM1):c.131G>A (p.Trp44Ter) rs1566381457
NM_000359.3(TGM1):c.2403T>A (p.Gly801=)

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