ClinVar Miner

List of variants in gene TGM1 reported as uncertain significance for autosomal recessive congenital ichthyosis

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 138
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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.125C>A (p.Ser42Tyr) rs41295338 0.00428
NM_000359.3(TGM1):c.61A>G (p.Thr21Ala) rs140542428 0.00149
NM_000359.3(TGM1):c.1298+9G>A rs201015655 0.00140
NM_000359.3(TGM1):c.106C>A (p.Arg36Ser) rs145197904 0.00106
NM_000359.3(TGM1):c.252C>T (p.Gly84=) rs148048398 0.00066
NM_000359.3(TGM1):c.2088+14G>T rs201660106 0.00061
NM_000359.3(TGM1):c.270T>A (p.Pro90=) rs201400055 0.00052
NM_000359.3(TGM1):c.383A>G (p.Glu128Gly) rs138592626 0.00046
NM_000359.3(TGM1):c.245C>T (p.Ser82Phe) rs141792428 0.00044
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.519C>T (p.Pro173=) rs139811103 0.00028
NM_000359.3(TGM1):c.831C>T (p.Tyr277=) rs559847457 0.00026
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.463C>T (p.Arg155Trp) rs187901859 0.00016
NM_000359.3(TGM1):c.122G>A (p.Arg41His) rs768398275 0.00015
NM_000359.3(TGM1):c.2221G>A (p.Val741Ile) rs141864003 0.00015
NM_000359.3(TGM1):c.885C>T (p.His295=) rs186352813 0.00012
NM_000359.3(TGM1):c.2394C>T (p.Asp798=) rs201811993 0.00011
NM_000359.3(TGM1):c.923G>A (p.Arg308Gln) rs201328637 0.00011
NM_000359.3(TGM1):c.100C>T (p.Arg34Cys) rs149148326 0.00010
NM_000359.3(TGM1):c.2029G>A (p.Gly677Arg) rs758380663 0.00010
NM_000359.3(TGM1):c.177C>T (p.Asp59=) rs8193031 0.00009
NM_000359.3(TGM1):c.891G>A (p.Val297=) rs768880844 0.00009
NM_000359.3(TGM1):c.97G>A (p.Gly33Arg) rs142455594 0.00009
NM_000359.3(TGM1):c.1967G>A (p.Arg656Gln) rs369173679 0.00007
NM_000359.3(TGM1):c.604G>A (p.Gly202Arg) rs141685762 0.00007
NM_000359.3(TGM1):c.838G>A (p.Glu280Lys) rs150181059 0.00007
NM_000359.3(TGM1):c.1216G>A (p.Asp406Asn) rs200050519 0.00006
NM_000359.3(TGM1):c.1761C>T (p.Asp587=) rs751201972 0.00006
NM_000359.3(TGM1):c.376C>T (p.Arg126Cys) rs397514524 0.00006
NM_000359.3(TGM1):c.550C>T (p.Pro184Ser) rs200517023 0.00006
NM_000359.3(TGM1):c.719G>A (p.Arg240His) rs138574046 0.00006
NM_000359.3(TGM1):c.1062G>A (p.Ala354=) rs758437844 0.00005
NM_000359.3(TGM1):c.*2C>T rs372231860 0.00004
NM_000359.3(TGM1):c.*90T>C rs886050437 0.00004
NM_000359.3(TGM1):c.1143T>G (p.Ala381=) rs149449576 0.00004
NM_000359.3(TGM1):c.1317C>T (p.Asn439=) rs141972252 0.00004
NM_000359.3(TGM1):c.1631A>G (p.Tyr544Cys) rs1044429462 0.00004
NM_000359.3(TGM1):c.2066G>A (p.Arg689His) rs764380548 0.00004
NM_000359.3(TGM1):c.2377G>A (p.Gly793Arg) rs188646084 0.00004
NM_000359.3(TGM1):c.418A>G (p.Ile140Val) rs149923908 0.00004
NM_000359.3(TGM1):c.765T>C (p.Ile255=) rs372360509 0.00004
NM_000359.3(TGM1):c.1305C>T (p.Phe435=) rs1444157818 0.00003
NM_000359.3(TGM1):c.1469A>G (p.Asp490Gly) rs121918724 0.00003
NM_000359.3(TGM1):c.1473G>A (p.Thr491=) rs187372624 0.00003
NM_000359.3(TGM1):c.1609C>T (p.Arg537Trp) rs943299597 0.00003
NM_000359.3(TGM1):c.16C>T (p.Arg6Cys) rs372412279 0.00003
NM_000359.3(TGM1):c.2337C>T (p.His779=) rs755635993 0.00003
NM_000359.3(TGM1):c.2440C>T (p.Arg814Ter) rs755589419 0.00003
NM_000359.3(TGM1):c.1467C>T (p.Tyr489=) rs768561754 0.00002
NM_000359.3(TGM1):c.2220C>T (p.Asn740=) rs554951371 0.00002
NM_000359.3(TGM1):c.266G>A (p.Arg89Gln) rs141492969 0.00002
NM_000359.3(TGM1):c.33T>C (p.Arg11=) rs754885672 0.00002
NM_000359.3(TGM1):c.638C>G (p.Pro213Arg) rs757888791 0.00002
NM_000359.3(TGM1):c.771C>T (p.Tyr257=) rs141590446 0.00002
NM_000359.3(TGM1):c.876+9C>T rs746777441 0.00002
NM_000359.3(TGM1):c.967C>T (p.Arg323Trp) rs771820315 0.00002
NM_000359.3(TGM1):c.1075G>A (p.Val359Met) rs202037016 0.00001
NM_000359.3(TGM1):c.1081A>G (p.Ile361Val) rs757682828 0.00001
NM_000359.3(TGM1):c.1121A>G (p.Tyr374Cys) rs2040782954 0.00001
NM_000359.3(TGM1):c.1184C>T (p.Thr395Ile) rs372498705 0.00001
NM_000359.3(TGM1):c.1209C>T (p.Ser403=) rs1223911289 0.00001
NM_000359.3(TGM1):c.1403-15C>T rs935571611 0.00001
NM_000359.3(TGM1):c.1840C>T (p.Leu614Phe) rs770201228 0.00001
NM_000359.3(TGM1):c.2059C>T (p.Arg687Cys) rs147516124 0.00001
NM_000359.3(TGM1):c.2180G>A (p.Arg727Gln) rs775373347 0.00001
NM_000359.3(TGM1):c.2185G>A (p.Glu729Lys) rs745826502 0.00001
NM_000359.3(TGM1):c.265C>T (p.Arg89Trp) rs146189995 0.00001
NM_000359.3(TGM1):c.278G>A (p.Arg93Gln) rs753328770 0.00001
NM_000359.3(TGM1):c.359C>T (p.Ser120Leu) rs138885883 0.00001
NM_000359.3(TGM1):c.430G>A (p.Gly144Arg) rs778635368 0.00001
NM_000359.3(TGM1):c.431G>A (p.Gly144Glu) rs1465243895 0.00001
NM_000359.3(TGM1):c.520G>A (p.Glu174Lys) rs768705863 0.00001
NM_000359.3(TGM1):c.541G>A (p.Val181Met) rs778143033 0.00001
NM_000359.3(TGM1):c.555G>A (p.Val185=) rs753181868 0.00001
NM_000359.3(TGM1):c.674G>A (p.Arg225His) rs549195122 0.00001
NM_000359.3(TGM1):c.791G>A (p.Arg264Gln) rs781006633 0.00001
NM_000359.3(TGM1):c.871G>A (p.Gly291Ser) rs1437822062 0.00001
NM_000359.3(TGM1):c.959A>G (p.Asn320Ser) rs768214832 0.00001
NM_000359.3(TGM1):c.*164G>A rs978100908
NM_000359.3(TGM1):c.1082T>C (p.Ile361Thr) rs1057517837
NM_000359.3(TGM1):c.1102A>G (p.Thr368Ala) rs2040783201
NM_000359.3(TGM1):c.1104G>A (p.Thr368=) rs902231692
NM_000359.3(TGM1):c.1163T>C (p.Leu388Pro) rs1555306116
NM_000359.3(TGM1):c.1227A>C (p.Thr409=) rs769098662
NM_000359.3(TGM1):c.1234A>G (p.Thr412Ala) rs2040777941
NM_000359.3(TGM1):c.1261A>G (p.Met421Val) rs752670603
NM_000359.3(TGM1):c.1289A>T (p.Asp430Val) rs1555306103
NM_000359.3(TGM1):c.1318G>T (p.Asp440Tyr)
NM_000359.3(TGM1):c.1336C>G (p.Pro446Ala) rs886050438
NM_000359.3(TGM1):c.1338G>A (p.Pro446=) rs776701915
NM_000359.3(TGM1):c.1491G>A (p.Glu497=) rs1199404507
NM_000359.3(TGM1):c.1492-5C>T rs201484627
NM_000359.3(TGM1):c.1492-6C>T rs1043976771
NM_000359.3(TGM1):c.1567A>G (p.Ile523Val) rs1047493777
NM_000359.3(TGM1):c.1570G>A (p.Gly524Ser) rs765914927
NM_000359.3(TGM1):c.1754C>T (p.Ala585Val) rs2040738382
NM_000359.3(TGM1):c.1820G>C (p.Arg607Pro) rs774708318
NM_000359.3(TGM1):c.1862A>G (p.Tyr621Cys) rs1566376648
NM_000359.3(TGM1):c.1905A>C (p.Glu635Asp) rs547689240
NM_000359.3(TGM1):c.1940C>T (p.Thr647Ile) rs778371971
NM_000359.3(TGM1):c.1966C>T (p.Arg656Trp) rs144318024
NM_000359.3(TGM1):c.2121T>C (p.Cys707=) rs749407588
NM_000359.3(TGM1):c.2184C>T (p.Leu728=) rs772044077
NM_000359.3(TGM1):c.2231T>A (p.Ile744Asn) rs767241210
NM_000359.3(TGM1):c.2243A>G (p.Glu748Gly) rs1205750292
NM_000359.3(TGM1):c.2350G>T (p.Val784Leu)
NM_000359.3(TGM1):c.2381dup (p.Phe795fs) rs949960795
NM_000359.3(TGM1):c.2417_2419del (p.Gly806del) rs1439726634
NM_000359.3(TGM1):c.2441G>C (p.Arg814Pro) rs747705778
NM_000359.3(TGM1):c.319+15T>C rs886050441
NM_000359.3(TGM1):c.319+9G>A rs749759208
NM_000359.3(TGM1):c.344T>G (p.Val115Gly)
NM_000359.3(TGM1):c.350T>C (p.Leu117Ser) rs1483848337
NM_000359.3(TGM1):c.445A>G (p.Met149Val) rs2040810906
NM_000359.3(TGM1):c.454C>G (p.Leu152Val) rs532525772
NM_000359.3(TGM1):c.464G>C (p.Arg155Pro) rs374574340
NM_000359.3(TGM1):c.509-331G>A rs1466743422
NM_000359.3(TGM1):c.509-7A>G rs1594572917
NM_000359.3(TGM1):c.566G>A (p.Gly189Asp) rs886050440
NM_000359.3(TGM1):c.631A>G (p.Thr211Ala) rs566962779
NM_000359.3(TGM1):c.635C>T (p.Ser212Phe) rs1555306304
NM_000359.3(TGM1):c.641A>G (p.Asn214Ser) rs147994543
NM_000359.3(TGM1):c.655A>G (p.Lys219Glu)
NM_000359.3(TGM1):c.748T>G (p.Trp250Gly)
NM_000359.3(TGM1):c.772G>A (p.Val258Met) rs771471341
NM_000359.3(TGM1):c.78GCCAGA[2] (p.26EP[2]) rs762513810
NM_000359.3(TGM1):c.78GCCAGA[5] (p.26EP[5]) rs762513810
NM_000359.3(TGM1):c.901T>C (p.Cys301Arg) rs2040791339
NM_000359.3(TGM1):c.937G>A (p.Gly313Arg) rs2040790525
NM_000359.3(TGM1):c.941G>A (p.Gly314Asp) rs886050439
NM_000359.3(TGM1):c.95_96insGCCTGA (p.26_27EP[4]) rs1555306576
NM_000359.3(TGM1):c.964T>C (p.Ser322Pro) rs2139024917
NM_000359.3(TGM1):c.96C>T (p.Asp32=) rs151333205

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