ClinVar Miner

Variants in gene TGM1 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 16
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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.61A>G (p.Thr21Ala) rs140542428 0.00149
NM_000359.3(TGM1):c.106C>A (p.Arg36Ser) rs145197904 0.00106
NM_000359.3(TGM1):c.270T>A (p.Pro90=) rs201400055 0.00052
NM_000359.3(TGM1):c.1762G>A (p.Ala588Thr) rs146728175 0.00043
NM_000359.3(TGM1):c.2160C>T (p.Thr720=) rs139387079 0.00040
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.885C>T (p.His295=) rs186352813 0.00012
NM_000359.3(TGM1):c.923G>A (p.Arg308Gln) rs201328637 0.00011
NM_000359.3(TGM1):c.177C>T (p.Asp59=) rs8193031 0.00009
NM_000359.3(TGM1):c.1761C>T (p.Asp587=) rs751201972 0.00006
NM_000359.3(TGM1):c.550C>T (p.Pro184Ser) rs200517023 0.00006
NM_000359.3(TGM1):c.2337C>T (p.His779=) rs755635993 0.00003
NM_000359.3(TGM1):c.248G>A (p.Arg83Gln) rs771051927 0.00003

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