ClinVar Miner

List of variants in gene TUSC3 studied for carbohydrate metabolism disease

Included ClinVar conditions (305):
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Gene type:
ClinVar version:
Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_006765.4(TUSC3):c.309-6T>C rs1035972 0.31124
NM_006765.4(TUSC3):c.912G>A (p.Ser304=) rs17121892 0.02710
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val) rs11545035 0.00605
NM_006765.4(TUSC3):c.862+19G>A rs144272482 0.00435
NM_006765.4(TUSC3):c.38C>T (p.Ala13Val) rs200808372 0.00054
NM_006765.4(TUSC3):c.768T>C (p.Tyr256=) rs149033081 0.00029
NM_006765.4(TUSC3):c.1028+11T>C rs187670751 0.00025
NM_006765.4(TUSC3):c.1029-8T>C rs371128729 0.00021
NM_006765.4(TUSC3):c.568-15A>G rs186717319 0.00018
NM_006765.4(TUSC3):c.19C>T (p.Pro7Ser) rs201741917 0.00016
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter) rs200667343 0.00007
NM_006765.4(TUSC3):c.25C>G (p.Arg9Gly) rs755808199 0.00006
NM_006765.4(TUSC3):c.557C>T (p.Thr186Met) rs768790010 0.00004
NM_006765.4(TUSC3):c.938-12G>C rs762105504 0.00004
NM_006765.4(TUSC3):c.139-6T>C rs1033112526 0.00001
NM_006765.4(TUSC3):c.187C>T (p.Arg63Cys) rs751785405 0.00001
NM_006765.4(TUSC3):c.220C>T (p.Arg74Ter) rs1251881194 0.00001
NM_006765.4(TUSC3):c.308+3A>G rs778993933 0.00001
NM_006765.4(TUSC3):c.309-3C>G rs776386983 0.00001
NM_006765.4(TUSC3):c.309-8C>G rs771541606 0.00001
NM_006765.4(TUSC3):c.31A>G (p.Arg11Gly) rs778667759 0.00001
NM_006765.4(TUSC3):c.648T>C (p.Tyr216=) rs759856125 0.00001
NM_006765.4(TUSC3):c.67G>A (p.Gly23Arg) rs1454870259 0.00001
NC_000008.10:g.(?_15397940)_(15615318_?)dup
NC_000008.10:g.(?_15588155)_(15615318_?)del
NC_000008.10:g.(?_15601027)_(15621747_?)dup
NM_006765.4(TUSC3):c.1028G>C (p.Ser343Thr) rs1554486894
NM_006765.4(TUSC3):c.116G>T (p.Gly39Val)
NM_006765.4(TUSC3):c.119dup (p.Gly41fs)
NM_006765.4(TUSC3):c.142C>A (p.Leu48Ile)
NM_006765.4(TUSC3):c.159A>C (p.Val53=)
NM_006765.4(TUSC3):c.163C>T (p.Gln55Ter) rs387906804
NM_006765.4(TUSC3):c.221G>A (p.Arg74Gln)
NM_006765.4(TUSC3):c.225del (p.Lys75fs) rs1554461593
NM_006765.4(TUSC3):c.238C>G (p.Pro80Ala)
NM_006765.4(TUSC3):c.255C>T (p.Ser85=)
NM_006765.4(TUSC3):c.309-15C>G
NM_006765.4(TUSC3):c.309-16C>T
NM_006765.4(TUSC3):c.420dup (p.Gln141fs) rs773426468
NM_006765.4(TUSC3):c.426+16G>A
NM_006765.4(TUSC3):c.44G>A (p.Arg15Gln)
NM_006765.4(TUSC3):c.53G>A (p.Arg18Gln) rs2129132447
NM_006765.4(TUSC3):c.55_69delinsGC (p.Tyr19fs)
NM_006765.4(TUSC3):c.568-2A>G rs2129179995
NM_006765.4(TUSC3):c.581G>C (p.Arg194Thr)
NM_006765.4(TUSC3):c.609T>G (p.Ala203=)
NM_006765.4(TUSC3):c.640T>C (p.Leu214=)
NM_006765.4(TUSC3):c.670T>G (p.Phe224Val) rs1807455847
NM_006765.4(TUSC3):c.708+16G>T
NM_006765.4(TUSC3):c.786dup (p.Asn263fs) rs1585215916
NM_006765.4(TUSC3):c.85C>T (p.Leu29Phe)
NM_006765.4(TUSC3):c.863A>T (p.Asn288Ile)
NM_006765.4(TUSC3):c.867C>T (p.Ala289=)
NM_006765.4(TUSC3):c.868G>A (p.Ala290Thr)
NM_006765.4(TUSC3):c.87C>T (p.Leu29=) rs78626330
NM_006765.4(TUSC3):c.924T>G (p.Val308=)
NM_006765.4(TUSC3):c.938-10C>G
NM_006765.4(TUSC3):c.93G>C (p.Leu31=)
NM_006765.4(TUSC3):c.946C>T (p.Leu316=)
NM_006765.4(TUSC3):c.94C>T (p.Leu32=)
Single allele

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