ClinVar Miner

List of variants in gene TGM6 studied for cerebellar degeneration

Included ClinVar conditions (79):
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Gene type:
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Total variants: 105
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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.*31T>C rs2076652 0.44571
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.789G>A (p.Lys263=) rs6114033 0.13293
NM_198994.3(TGM6):c.1093+5G>A rs6137891 0.07885
NM_198994.3(TGM6):c.477C>T (p.Ser159=) rs16984872 0.03978
NM_198994.3(TGM6):c.422C>A (p.Ala141Glu) rs73894929 0.02857
NM_198994.3(TGM6):c.1342C>T (p.Arg448Trp) rs147979536 0.01429
NM_198994.3(TGM6):c.989+11C>T rs6048684 0.01409
NM_198994.3(TGM6):c.1103G>A (p.Arg368Gln) rs75122556 0.00731
NM_198994.3(TGM6):c.42G>A (p.Ser14=) rs149394698 0.00719
NM_198994.3(TGM6):c.1126G>A (p.Ala376Thr) rs79724097 0.00706
NM_198994.3(TGM6):c.1656C>T (p.Ala552=) rs75601099 0.00634
NM_198994.3(TGM6):c.1657G>A (p.Val553Met) rs74338361 0.00574
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.1235G>A (p.Arg412His) rs142679146 0.00410
NM_198994.3(TGM6):c.1580T>A (p.Val527Glu) rs61729226 0.00370
NM_198994.3(TGM6):c.481A>G (p.Ser161Gly) rs141930579 0.00348
NM_198994.3(TGM6):c.*87C>A rs45544131 0.00240
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.1429_1430insTCTCT (p.Gly477fs) rs766605124 0.00052
NM_198994.3(TGM6):c.1452C>T (p.Asp484=) rs142748417 0.00046
NM_198994.3(TGM6):c.622G>A (p.Val208Met) rs61743614 0.00037
NM_198994.3(TGM6):c.115A>T (p.Ser39Cys) rs144201778 0.00036
NM_198994.3(TGM6):c.555C>T (p.Asp185=) rs144101264 0.00036
NM_198994.3(TGM6):c.1690C>T (p.Pro564Ser) rs200674917 0.00034
NM_198994.3(TGM6):c.277A>G (p.Met93Val) rs146529216 0.00029
NM_198994.3(TGM6):c.38G>A (p.Arg13Gln) rs201694328 0.00027
NM_198994.3(TGM6):c.1171G>A (p.Val391Met) rs116904482 0.00026
NM_198994.3(TGM6):c.1040C>T (p.Pro347Leu) rs183670042 0.00024
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.-42C>T rs376489998 0.00016
NM_198994.3(TGM6):c.379C>T (p.Arg127Trp) rs148854519 0.00014
NM_198994.3(TGM6):c.632G>A (p.Arg211His) rs192045738 0.00014
NM_198994.3(TGM6):c.1024C>T (p.Arg342Trp) rs150566697 0.00010
NM_198994.3(TGM6):c.835G>A (p.Gly279Arg) rs375595045 0.00010
NM_198994.3(TGM6):c.951C>T (p.Phe317=) rs201333931 0.00010
NM_198994.3(TGM6):c.980A>G (p.Asp327Gly) rs387907098 0.00010
NM_198994.3(TGM6):c.990-6T>C rs370391681 0.00009
NM_198994.3(TGM6):c.1170C>T (p.Phe390=) rs765423180 0.00008
NM_198994.3(TGM6):c.834C>T (p.Ala278=) rs371740473 0.00007
NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp) rs387907097 0.00006
NM_198994.3(TGM6):c.1528G>C (p.Asp510His) rs201964784 0.00005
NM_198994.3(TGM6):c.181+10C>T rs780460166 0.00005
NM_198994.3(TGM6):c.883G>A (p.Val295Met) rs200341133 0.00005
NM_198994.3(TGM6):c.1093+10A>G rs375737445 0.00004
NM_198994.3(TGM6):c.1382T>C (p.Leu461Pro) rs984559925 0.00004
NM_198994.3(TGM6):c.331C>T (p.Arg111Cys) rs372250159 0.00004
NM_198994.3(TGM6):c.543+7A>G rs755777005 0.00004
NM_198994.3(TGM6):c.595G>A (p.Gly199Ser) rs182249285 0.00004
NM_198994.3(TGM6):c.691C>T (p.Arg231Ter) rs201338900 0.00004
NM_198994.3(TGM6):c.727G>A (p.Gly243Ser) rs202245813 0.00004
NM_198994.3(TGM6):c.992A>G (p.Asn331Ser) rs138323389 0.00004
NM_198994.3(TGM6):c.1089T>C (p.Ser363=) rs762242728 0.00003
NM_198994.3(TGM6):c.621C>A (p.Asp207Glu) rs148696208 0.00003
NM_198994.3(TGM6):c.674T>G (p.Val225Gly) rs1461093480 0.00003
NM_198994.3(TGM6):c.816C>T (p.Gly272=) rs368599004 0.00003
NM_198994.3(TGM6):c.*97T>A rs1351166866 0.00002
NM_198994.3(TGM6):c.717G>A (p.Gln239=) rs201506281 0.00002
NM_198994.3(TGM6):c.850+4C>T rs765181893 0.00002
NM_198994.3(TGM6):c.1005G>A (p.Trp335Ter) rs750743855 0.00001
NM_198994.3(TGM6):c.1332G>A (p.Pro444=) rs763791368 0.00001
NM_198994.3(TGM6):c.1384T>C (p.Phe462Leu) rs199968743 0.00001
NM_198994.3(TGM6):c.1478C>T (p.Pro493Leu) rs776319756 0.00001
NM_198994.3(TGM6):c.1501G>A (p.Val501Met) rs764377731 0.00001
NM_198994.3(TGM6):c.390C>T (p.Gly130=) rs751704232 0.00001
NM_198994.3(TGM6):c.516A>G (p.Ile172Met) rs779578465 0.00001
NM_198994.3(TGM6):c.787A>G (p.Lys263Glu) rs886056552 0.00001
NM_198994.3(TGM6):c.878G>A (p.Arg293Gln) rs776511523 0.00001
NM_198994.2(TGM6):c.425_435del11 rs1222726216
NM_198994.3(TGM6):c.-36T>C rs371018532
NM_198994.3(TGM6):c.-5T>A rs886056550
NM_198994.3(TGM6):c.1093+1G>T
NM_198994.3(TGM6):c.1163G>A (p.Gly388Asp) rs2122375873
NM_198994.3(TGM6):c.1179G>A (p.Ala393=)
NM_198994.3(TGM6):c.1198A>G (p.Ile400Val) rs552530897
NM_198994.3(TGM6):c.1336+1G>T rs2122376594
NM_198994.3(TGM6):c.1352G>C (p.Arg451Thr) rs1265293202
NM_198994.3(TGM6):c.1416G>C (p.Trp472Cys) rs267605859
NM_198994.3(TGM6):c.1653C>T (p.His551=) rs755072071
NM_198994.3(TGM6):c.1678+11G>T rs376838053
NM_198994.3(TGM6):c.1678+12C>A rs1171960882
NM_198994.3(TGM6):c.1719AGA[1] (p.Glu574del) rs793888526
NM_198994.3(TGM6):c.1953_1955dup (p.Gln652dup) rs557817405
NM_198994.3(TGM6):c.1967+59AG[2] rs60388755
NM_198994.3(TGM6):c.2065C>T (p.Pro689Ser) rs76002756
NM_198994.3(TGM6):c.303C>T (p.Leu101=) rs757250219
NM_198994.3(TGM6):c.491T>A (p.Ile164Asn)
NM_198994.3(TGM6):c.538G>A (p.Gly180Arg)
NM_198994.3(TGM6):c.64A>G (p.Thr22Ala) rs773079291
NM_198994.3(TGM6):c.730G>A (p.Gly244Ser)
NM_198994.3(TGM6):c.76C>T (p.Pro26Ser) rs766248910
NM_198994.3(TGM6):c.897del (p.Ser300fs)
NM_198994.3(TGM6):c.913G>T (p.Asp305Tyr) rs748573955
NM_198994.3(TGM6):c.95T>G (p.Val32Gly) rs886056551

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