ClinVar Miner

List of variants in gene TGM6 reported as uncertain significance for cerebellar ataxia

Included ClinVar conditions (255):
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Gene type:
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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_198994.3(TGM6):c.115A>T (p.Ser39Cys) rs144201778 0.00036
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.940G>A (p.Val314Met) rs202184911 0.00021
NM_198994.3(TGM6):c.632G>A (p.Arg211His) rs192045738 0.00014
NM_198994.3(TGM6):c.835G>A (p.Gly279Arg) rs375595045 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.816C>T (p.Gly272=) rs368599004 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.1093+10A>G rs375737445 0.00004
NM_198994.3(TGM6):c.1382T>C (p.Leu461Pro) rs984559925 0.00004
NM_198994.3(TGM6):c.543+7A>G rs755777005 0.00004
NM_198994.3(TGM6):c.727G>A (p.Gly243Ser) rs202245813 0.00004
NM_198994.3(TGM6):c.1089T>C (p.Ser363=) rs762242728 0.00003
NM_198994.3(TGM6):c.674T>G (p.Val225Gly) rs1461093480 0.00003
NM_198994.3(TGM6):c.*97T>A rs1351166866 0.00002
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.1501G>A (p.Val501Met) rs764377731 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_198994.3(TGM6):c.-5T>A rs886056550
NM_198994.3(TGM6):c.1132dup (p.Arg378fs)
NM_198994.3(TGM6):c.1163G>A (p.Gly388Asp) rs2122375873
NM_198994.3(TGM6):c.1179G>A (p.Ala393=)
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.1678+11G>T rs376838053
NM_198994.3(TGM6):c.1678+12C>A rs1171960882
NM_198994.3(TGM6):c.1833+1G>T
NM_198994.3(TGM6):c.2065C>T (p.Pro689Ser) rs76002756
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.907G>A (p.Asp303Asn)
NM_198994.3(TGM6):c.913G>T (p.Asp305Tyr) rs748573955
NM_198994.3(TGM6):c.95T>G (p.Val32Gly) rs886056551

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