ClinVar Miner

List of variants in gene TGM6 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_198994.3(TGM6):c.1342C>T (p.Arg448Trp) rs147979536 0.01429
NM_198994.3(TGM6):c.42G>A (p.Ser14=) rs149394698 0.00719
NM_198994.3(TGM6):c.-2A>G rs80329336 0.00475
NM_198994.3(TGM6):c.12C>G (p.Ile4Met) rs139796716 0.00438
NM_198994.3(TGM6):c.502G>A (p.Val168Met) rs147494925 0.00175
NM_198994.3(TGM6):c.2052G>A (p.Val684=) rs149369357 0.00165
NM_198994.3(TGM6):c.1523G>A (p.Gly508Asp) rs140719871 0.00149
NM_198994.3(TGM6):c.1995G>C (p.Arg665Ser) rs138807504 0.00136
NM_198994.3(TGM6):c.1216G>A (p.Glu406Lys) rs144338465 0.00135
NM_198994.3(TGM6):c.245G>C (p.Gly82Ala) rs144094215 0.00080
NM_198994.3(TGM6):c.1011G>A (p.Glu337=) rs142832802 0.00056
NM_198994.3(TGM6):c.1452C>T (p.Asp484=) rs142748417 0.00046
NM_198994.3(TGM6):c.115A>T (p.Ser39Cys) rs144201778 0.00036
NM_198994.3(TGM6):c.940G>A (p.Val314Met) rs202184911 0.00021
NM_198994.3(TGM6):c.31T>G (p.Trp11Gly) rs141178275 0.00018
NM_198994.3(TGM6):c.2078A>G (p.Asp693Gly) rs377479985 0.00013
NM_198994.3(TGM6):c.951C>T (p.Phe317=) rs201333931 0.00010
NM_198994.3(TGM6):c.986T>C (p.Met329Thr) rs111506138 0.00009
NM_198994.3(TGM6):c.1303G>A (p.Val435Met) rs769042038 0.00006
NM_198994.3(TGM6):c.1968C>T (p.Asp656=) rs141258102 0.00006
NM_198994.3(TGM6):c.691C>T (p.Arg231Ter) rs201338900 0.00004
NM_198994.3(TGM6):c.763G>A (p.Val255Met) rs751618387 0.00004
NM_198994.3(TGM6):c.242G>A (p.Arg81Gln) rs767210657 0.00003
NM_198994.3(TGM6):c.188G>A (p.Arg63Gln) rs1404374284 0.00001
NM_198994.3(TGM6):c.517C>T (p.Arg173Ter) rs543298933 0.00001
NM_198994.2(TGM6):c.425_435del11 rs1222726216
NM_198994.3(TGM6):c.1066G>A (p.Asp356Asn)
NM_198994.3(TGM6):c.1093+1G>A rs1599953368
NM_198994.3(TGM6):c.1134C>T (p.Arg378=)
NM_198994.3(TGM6):c.1180G>A (p.Glu394Lys) rs2084728678
NM_198994.3(TGM6):c.1352G>C (p.Arg451Thr) rs1265293202
NM_198994.3(TGM6):c.1429_1430insTCTCTGGCGTGACGACCTCCTG (p.Gly477fs) rs1181987535
NM_198994.3(TGM6):c.1430_1431delinsTCTCTGGCGTGACGACCTCCTGGA (p.Gly477fs) rs2122409537
NM_198994.3(TGM6):c.1430_1439del (p.Gly477fs) rs760886419
NM_198994.3(TGM6):c.1431G>A (p.Gly477=) rs373549904
NM_198994.3(TGM6):c.1515C>T (p.Pro505=) rs750555578
NM_198994.3(TGM6):c.1812A>G (p.Leu604=)
NM_198994.3(TGM6):c.1844_1848del (p.Pro615fs) rs1313336472
NM_198994.3(TGM6):c.1916G>C (p.Cys639Ser)
NM_198994.3(TGM6):c.1953_1955dup (p.Gln652dup) rs557817405
NM_198994.3(TGM6):c.231G>A (p.Ser77=)
NM_198994.3(TGM6):c.543+1G>T
NM_198994.3(TGM6):c.612A>C (p.Pro204=)

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