ClinVar Miner

List of variants in gene TGM1 studied for autosomal recessive congenital ichthyosis

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 324
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HGVS dbSNP gnomAD frequency
NM_000359.3(TGM1):c.*4C>T rs2229463 0.79724
NM_000359.3(TGM1):c.726G>A (p.Glu242=) rs35755034 0.04892
NM_000359.3(TGM1):c.366G>A (p.Ser122=) rs17102410 0.03062
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) rs35312232 0.01146
NM_000359.3(TGM1):c.54G>A (p.Gln18=) rs41295336 0.00761
NM_000359.3(TGM1):c.2264C>T (p.Ser755Leu) rs35926651 0.00599
NM_000359.3(TGM1):c.285C>T (p.Ser95=) rs2228336 0.00581
NM_000359.3(TGM1):c.1559A>G (p.Glu520Gly) rs142404759 0.00555
NM_000359.3(TGM1):c.365C>T (p.Ser122Leu) rs141486741 0.00492
NM_000359.3(TGM1):c.1645+5C>A rs187575724 0.00468
NM_000359.3(TGM1):c.168G>A (p.Ala56=) rs79251149 0.00439
NM_000359.3(TGM1):c.125C>A (p.Ser42Tyr) rs41295338 0.00428
NM_000359.3(TGM1):c.1113C>T (p.Ser371=) rs61747601 0.00421
NM_000359.3(TGM1):c.361C>T (p.Arg121Cys) rs80145541 0.00384
NM_000359.3(TGM1):c.1819C>T (p.Arg607Cys) rs2229464 0.00382
NM_000359.3(TGM1):c.2405A>T (p.Asp802Val) rs2228337 0.00273
NM_000359.3(TGM1):c.394G>A (p.Asp132Asn) rs2229462 0.00244
NM_000359.3(TGM1):c.429C>T (p.Arg143=) rs144989372 0.00239
NM_000359.3(TGM1):c.920G>A (p.Arg307Gln) rs146770534 0.00155
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.411C>T (p.Asp137=) rs145002586 0.00113
NM_000359.3(TGM1):c.106C>A (p.Arg36Ser) rs145197904 0.00106
NM_000359.3(TGM1):c.432G>A (p.Gly144=) rs141559048 0.00102
NM_000359.3(TGM1):c.*162C>A rs8193035 0.00079
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.696G>A (p.Glu232=) rs149605227 0.00059
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.660T>C (p.Phe220=) rs201493499 0.00040
NM_000359.3(TGM1):c.2258G>A (p.Arg753His) rs202020907 0.00029
NM_000359.3(TGM1):c.919C>G (p.Arg307Gly) rs121918731 0.00029
NM_000359.3(TGM1):c.519C>T (p.Pro173=) rs139811103 0.00028
NM_000359.3(TGM1):c.877-2A>G rs142634031 0.00027
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.876+10G>A rs201936986 0.00022
NM_000359.3(TGM1):c.319+8C>T rs41295342 0.00021
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu) rs143473912 0.00021
NM_000359.3(TGM1):c.60T>C (p.Pro20=) rs145812304 0.00020
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.216G>A (p.Gly72=) rs771277378 0.00014
NM_000359.3(TGM1):c.540C>T (p.His180=) rs145981439 0.00014
NM_000359.3(TGM1):c.885C>T (p.His295=) rs186352813 0.00012
NM_000359.3(TGM1):c.1135G>C (p.Val379Leu) rs121918720 0.00011
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.297A>G (p.Ala99=) rs41295340 0.00010
NM_000359.3(TGM1):c.177C>T (p.Asp59=) rs8193031 0.00009
NM_000359.3(TGM1):c.427C>T (p.Arg143Cys) rs531650682 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.420A>G (p.Ile140Met) rs139208806 0.00008
NM_000359.3(TGM1):c.1653C>T (p.Asp551=) rs2855111 0.00007
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.66G>A (p.Thr22=) rs756448718 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.2439T>C (p.Ser813=) rs778402369 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.377G>A (p.Arg126His) rs200491579 0.00004
NM_000359.3(TGM1):c.418A>G (p.Ile140Val) rs149923908 0.00004
NM_000359.3(TGM1):c.425G>A (p.Arg142His) rs121918718 0.00004
NM_000359.3(TGM1):c.765T>C (p.Ile255=) rs372360509 0.00004
NM_000359.3(TGM1):c.876+2T>C rs151054393 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.968G>A (p.Arg323Gln) rs121918717 0.00003
NM_000359.3(TGM1):c.1223_1227del (p.Asp408fs) rs398122905 0.00002
NM_000359.3(TGM1):c.1467C>T (p.Tyr489=) rs768561754 0.00002
NM_000359.3(TGM1):c.160C>T (p.Arg54Ter) rs140000324 0.00002
NM_000359.3(TGM1):c.21C>T (p.Ser7=) rs150913268 0.00002
NM_000359.3(TGM1):c.2220C>T (p.Asn740=) rs554951371 0.00002
NM_000359.3(TGM1):c.232C>T (p.Arg78Ter) rs760429286 0.00002
NM_000359.3(TGM1):c.266G>A (p.Arg89Gln) rs141492969 0.00002
NM_000359.3(TGM1):c.316C>T (p.Arg106Ter) rs773303931 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.832G>A (p.Gly278Arg) rs121918725 0.00002
NM_000359.3(TGM1):c.857G>A (p.Arg286Gln) rs121918727 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.1042C>T (p.Arg348Ter) rs1296165092 0.00001
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.1186C>T (p.Arg396Cys) rs543521135 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.1417G>A (p.Gly473Ser) rs904122716 0.00001
NM_000359.3(TGM1):c.1420C>T (p.Pro474Ser) rs1202280089 0.00001
NM_000359.3(TGM1):c.1539C>T (p.Phe513=) rs1383613653 0.00001
NM_000359.3(TGM1):c.1552del (p.Val518fs) rs1294460452 0.00001
NM_000359.3(TGM1):c.1645+1G>T rs774242987 0.00001
NM_000359.3(TGM1):c.1744C>T (p.Gln582Ter) rs397514522 0.00001
NM_000359.3(TGM1):c.1840C>T (p.Leu614Phe) rs770201228 0.00001
NM_000359.3(TGM1):c.184G>T (p.Gly62Ter) rs886041950 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.2254C>T (p.Leu752=) rs985569116 0.00001
NM_000359.3(TGM1):c.2278C>T (p.Arg760Ter) rs398122904 0.00001
NM_000359.3(TGM1):c.2290C>T (p.Arg764Cys) rs201853046 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.379C>T (p.Arg127Ter) rs886041250 0.00001
NM_000359.3(TGM1):c.401A>G (p.Tyr134Cys) rs147916609 0.00001
NM_000359.3(TGM1):c.424C>T (p.Arg142Cys) rs121918716 0.00001
NM_000359.3(TGM1):c.428G>A (p.Arg143His) rs121918719 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.579G>A (p.Trp193Ter) rs199678720 0.00001
NM_000359.3(TGM1):c.652G>A (p.Gly218Ser) rs121918732 0.00001
NM_000359.3(TGM1):c.674G>A (p.Arg225His) rs549195122 0.00001
NM_000359.3(TGM1):c.704T>A (p.Leu235Ter) rs1199770893 0.00001
NM_000359.3(TGM1):c.788G>A (p.Trp263Ter) rs367699137 0.00001
NM_000359.3(TGM1):c.790C>T (p.Arg264Trp) rs201868387 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.872G>A (p.Gly291Asp) rs780990272 0.00001
NM_000359.3(TGM1):c.943C>T (p.Arg315Cys) rs397514525 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.1019G>A (p.Gly340Glu) rs867950920
NM_000359.3(TGM1):c.1038C>A (p.Tyr346Ter)
NM_000359.3(TGM1):c.1042_1043insTC (p.Arg348fs) rs1555306172
NM_000359.3(TGM1):c.1054C>G (p.Pro352Ala) rs1594571148
NM_000359.3(TGM1):c.1074C>G (p.Ser358Arg) rs779287673
NM_000359.3(TGM1):c.1082T>C (p.Ile361Thr) rs1057517837
NM_000359.3(TGM1):c.1090_1091del (p.Ser364fs)
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.1129del (p.Cys377fs)
NM_000359.3(TGM1):c.1145_1146delinsTGCT (p.Gly382fs)
NM_000359.3(TGM1):c.1146C>A (p.Gly382=) rs1126432
NM_000359.3(TGM1):c.1147G>A (p.Val383Met) rs121918722
NM_000359.3(TGM1):c.1159+1G>A rs1220151696
NM_000359.3(TGM1):c.1159+1G>T rs1220151696
NM_000359.3(TGM1):c.1160-2_1160-1del rs1555306117
NM_000359.3(TGM1):c.1163T>C (p.Leu388Pro) rs1555306116
NM_000359.3(TGM1):c.1166G>A (p.Arg389His) rs121918723
NM_000359.3(TGM1):c.1166G>C (p.Arg389Pro) rs121918723
NM_000359.3(TGM1):c.1175G>A (p.Gly392Asp) rs121918726
NM_000359.3(TGM1):c.1175del (p.Gly392fs)
NM_000359.3(TGM1):c.1187G>A (p.Arg396His) rs121918721
NM_000359.3(TGM1):c.1187G>T (p.Arg396Leu) rs121918721
NM_000359.3(TGM1):c.1194_1209dup (p.Ala404fs)
NM_000359.3(TGM1):c.1226_1227del (p.Thr409fs) rs1555306113
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.1264A>T (p.Lys422Ter) rs563305936
NM_000359.3(TGM1):c.1281_1282del (p.Asn428fs)
NM_000359.3(TGM1):c.1289A>T (p.Asp430Val) rs1555306103
NM_000359.3(TGM1):c.1297del (p.Trp433fs) rs2139023508
NM_000359.3(TGM1):c.1298+1G>A rs1566378425
NM_000359.3(TGM1):c.1298+2T>C rs1555306102
NM_000359.3(TGM1):c.1304_1308del (p.Phe435fs) rs398122900
NM_000359.3(TGM1):c.1307A>G (p.His436Arg) rs1381998109
NM_000359.3(TGM1):c.1313G>A (p.Trp438Ter) rs1555306089
NM_000359.3(TGM1):c.1318G>T (p.Asp440Tyr)
NM_000359.3(TGM1):c.131G>A (p.Trp44Ter) rs1566381457
NM_000359.3(TGM1):c.1329_1330del (p.Met443fs)
NM_000359.3(TGM1):c.132G>A (p.Trp44Ter) rs886039654
NM_000359.3(TGM1):c.1331dup (p.Arg445fs) rs398122903
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.1363T>C (p.Trp455Arg) rs863223405
NM_000359.3(TGM1):c.1366C>T (p.Gln456Ter)
NM_000359.3(TGM1):c.1401dup (p.Gly468fs)
NM_000359.3(TGM1):c.1402+1G>A rs2040774076
NM_000359.3(TGM1):c.1429_1431delinsCT (p.Val477fs)
NM_000359.3(TGM1):c.1472C>T (p.Thr491Met)
NM_000359.3(TGM1):c.1489delinsAC (p.Glu497fs)
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.1515G>A (p.Trp505Ter)
NM_000359.3(TGM1):c.1521del (p.Gln508fs) rs1566377068
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.1581_1591del (p.Val528fs)
NM_000359.3(TGM1):c.159C>A (p.Cys53Ter) rs201432046
NM_000359.3(TGM1):c.1625_1626insTC (p.Leu543fs)
NM_000359.3(TGM1):c.1642G>T (p.Glu548Ter)
NM_000359.3(TGM1):c.1645+1G>A
NM_000359.3(TGM1):c.1649C>G (p.Ser550Ter) rs1555305836
NM_000359.3(TGM1):c.1670del (p.Val557fs)
NM_000359.3(TGM1):c.1712_1785del (p.Ala571fs)
NM_000359.3(TGM1):c.1714_1715insTCAGATCCTGCCCCATC (p.Asn572fs)
NM_000359.3(TGM1):c.1754C>T (p.Ala585Val) rs2040738382
NM_000359.3(TGM1):c.1755_1762dup (p.Ala588fs)
NM_000359.3(TGM1):c.1820G>C (p.Arg607Pro) rs774708318
NM_000359.3(TGM1):c.1849_1850del (p.Val618fs) rs1555305783
NM_000359.3(TGM1):c.1862A>G (p.Tyr621Cys) rs1566376648
NM_000359.3(TGM1):c.1899del (p.Lys634fs)
NM_000359.3(TGM1):c.1905A>C (p.Glu635Asp) rs547689240
NM_000359.3(TGM1):c.1923_1927+2del rs398122902
NM_000359.3(TGM1):c.1927+1G>A
NM_000359.3(TGM1):c.1928-1G>A rs112419023
NM_000359.3(TGM1):c.1928-1G>C
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.1984C>T (p.Gln662Ter) rs1555305725
NM_000359.3(TGM1):c.1985del (p.Gln662fs)
NM_000359.3(TGM1):c.2047C>T (p.Gln683Ter) rs2040730164
NM_000359.3(TGM1):c.2060G>A (p.Arg687His) rs2139018911
NM_000359.3(TGM1):c.2090T>G (p.Leu697Ter) rs747781875
NM_000359.3(TGM1):c.2114del (p.Gln705fs) rs2139018490
NM_000359.3(TGM1):c.211C>T (p.Arg71Ter) rs2040818118
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.2226-2A>G rs752349623
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.2247_2248del (p.Val750fs)
NM_000359.3(TGM1):c.2260del (p.Gln754fs) rs2040682065
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.254C>A (p.Ser85Ter)
NM_000359.3(TGM1):c.305A>T (p.Asp102Val) rs398122901
NM_000359.3(TGM1):c.319+15T>C rs886050441
NM_000359.3(TGM1):c.319+9G>A rs749759208
NM_000359.3(TGM1):c.320-1G>T rs1156392436
NM_000359.3(TGM1):c.335_336del (p.Val112fs)
NM_000359.3(TGM1):c.344T>G (p.Val115Gly)
NM_000359.3(TGM1):c.344dup (p.Asp116fs)
NM_000359.3(TGM1):c.350T>C (p.Leu117Ser) rs1483848337
NM_000359.3(TGM1):c.365C>A (p.Ser122Ter)
NM_000359.3(TGM1):c.398_407dup (p.Tyr136Ter) rs1057517836
NM_000359.3(TGM1):c.398del (p.Glu133fs)
NM_000359.3(TGM1):c.400T>C (p.Tyr134His) rs1230140208
NM_000359.3(TGM1):c.408_411dup (p.Glu138fs) rs2139027688
NM_000359.3(TGM1):c.425G>C (p.Arg142Pro) rs121918718
NM_000359.3(TGM1):c.425_426delinsAA (p.Arg142Gln)
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.479C>G (p.Ser160Cys) rs121918728
NM_000359.3(TGM1):c.488del (p.Ile163fs)
NM_000359.3(TGM1):c.496G>T (p.Glu166Ter)
NM_000359.3(TGM1):c.509-331G>A rs1466743422
NM_000359.3(TGM1):c.509-7A>G rs1594572917
NM_000359.3(TGM1):c.527_528del (p.Gly176fs)
NM_000359.3(TGM1):c.566G>A (p.Gly189Asp) rs886050440
NM_000359.3(TGM1):c.566dup (p.Ser190fs) rs1211601030
NM_000359.3(TGM1):c.578G>A (p.Trp193Ter)
NM_000359.3(TGM1):c.586C>T (p.Gln196Ter) rs1566380103
NM_000359.3(TGM1):c.607C>T (p.Gln203Ter) rs201167101
NM_000359.3(TGM1):c.60_63dup (p.Thr22fs)
NM_000359.3(TGM1):c.614T>A (p.Leu205Gln) rs878853259
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.645del (p.Ile216fs)
NM_000359.3(TGM1):c.655A>G (p.Lys219Glu)
NM_000359.3(TGM1):c.674G>C (p.Arg225Pro)
NM_000359.3(TGM1):c.674_675delinsCT (p.Arg225Pro) rs2139026104
NM_000359.3(TGM1):c.679C>T (p.Gln227Ter) rs972054392
NM_000359.3(TGM1):c.687C>T (p.Asp229=) rs143352384
NM_000359.3(TGM1):c.748T>G (p.Trp250Gly)
NM_000359.3(TGM1):c.757+1G>C
NM_000359.3(TGM1):c.771C>A (p.Tyr257Ter)
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[4] (p.26EP[4]) rs762513810
NM_000359.3(TGM1):c.78GCCAGA[5] (p.26EP[5]) rs762513810
NM_000359.3(TGM1):c.802del (p.Val268fs) rs1322979131
NM_000359.3(TGM1):c.814T>C (p.Ser272Pro) rs764040146
NM_000359.3(TGM1):c.826T>A (p.Tyr276Asn) rs397514523
NM_000359.3(TGM1):c.844C>T (p.Gln282Ter) rs2139025289
NM_000359.3(TGM1):c.856C>T (p.Arg286Trp) rs773777400
NM_000359.3(TGM1):c.862T>C (p.Trp288Arg) rs1247223599
NM_000359.3(TGM1):c.866A>C (p.Asn289Thr) rs121918730
NM_000359.3(TGM1):c.874C>T (p.Gln292Ter)
NM_000359.3(TGM1):c.877-1G>A
NM_000359.3(TGM1):c.901T>C (p.Cys301Arg) rs2040791339
NM_000359.3(TGM1):c.910A>T (p.Ile304Phe) rs753798494
NM_000359.3(TGM1):c.919C>T (p.Arg307Trp) rs121918731
NM_000359.3(TGM1):c.925_945delinsCGGG (p.Gly309fs)
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.944G>A (p.Arg315His) rs143473912
NM_000359.3(TGM1):c.953C>G (p.Pro318Arg) rs2139024935
NM_000359.3(TGM1):c.953del (p.Pro318fs)
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
NM_000359.3(TGM1):c.984+1G>A rs749160734
TGM1, -86C-T

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