ClinVar Miner

List of variants in gene TGM6 reported by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_198994.3(TGM6):c.1968-10C>T rs6036467 0.98682
NM_198994.3(TGM6):c.172A>G (p.Met58Val) rs2076405 0.93204
NM_198994.3(TGM6):c.850+12G>A rs2076404 0.61481
NM_198994.3(TGM6):c.1968-11C>T rs2076653 0.44564
NM_198994.3(TGM6):c.1476G>A (p.Lys492=) rs2295077 0.26375
NM_198994.3(TGM6):c.1342C>T (p.Arg448Trp) rs147979536 0.01429
NM_198994.3(TGM6):c.1580T>A (p.Val527Glu) rs61729226 0.00370

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