ClinVar Miner

List of variants in gene TGM6 reported as uncertain significance by GeneDx

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_198994.3(TGM6):c.1528G>C (p.Asp510His) rs201964784 0.00007
NM_198994.3(TGM6):c.1322A>G (p.Tyr441Cys) rs138950659 0.00004
NM_198994.3(TGM6):c.241C>T (p.Arg81Trp) rs761552290 0.00002
NM_198994.3(TGM6):c.982A>G (p.Ser328Gly) rs1271717343 0.00001
NM_198994.3(TGM6):c.1286_1288dup (p.Val429_Gly430insVal) rs1324847966
NM_198994.3(TGM6):c.1331C>G (p.Pro444Arg) rs762711483
NM_198994.3(TGM6):c.1430_1431delinsTCTCTGGCGTGACGACCTCCTGGA (p.Gly477fs) rs2122409537
NM_198994.3(TGM6):c.1477C>T (p.Pro493Ser)
NM_198994.3(TGM6):c.1523del (p.Gly508fs) rs2514391150
NM_198994.3(TGM6):c.1576C>G (p.Arg526Gly) rs1275709205
NM_198994.3(TGM6):c.1657G>T (p.Val553Leu) rs74338361
NM_198994.3(TGM6):c.1723G>C (p.Asp575His)
NM_198994.3(TGM6):c.1777G>C (p.Gly593Arg)
NM_198994.3(TGM6):c.1784A>C (p.Lys595Thr)
NM_198994.3(TGM6):c.1833+1G>A
NM_198994.3(TGM6):c.1984C>A (p.Pro662Thr) rs1248061671
NM_198994.3(TGM6):c.294C>G (p.Thr98=) rs1292170721
NM_198994.3(TGM6):c.364C>A (p.Arg122Ser) rs145445566
NM_198994.3(TGM6):c.446C>G (p.Ser149Ter)
NM_198994.3(TGM6):c.543G>T (p.Gln181His)
NM_198994.3(TGM6):c.553G>A (p.Asp185Asn)
NM_198994.3(TGM6):c.705A>T (p.Gln235His) rs2122361659
NM_198994.3(TGM6):c.767C>T (p.Ala256Val) rs2514373143
NM_198994.3(TGM6):c.945C>G (p.Asp315Glu) rs947977404

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