ClinVar Miner

List of variants in gene TUSC3 reported as likely benign for carbohydrate metabolism disease

Included ClinVar conditions (304):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val) rs11545035 0.00605
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.938-12G>C rs762105504 0.00004
NM_006765.4(TUSC3):c.139-6T>C rs1033112526 0.00001
NM_006765.4(TUSC3):c.309-8C>G rs771541606 0.00001
NM_006765.4(TUSC3):c.648T>C (p.Tyr216=) rs759856125 0.00001
NM_006765.4(TUSC3):c.159A>C (p.Val53=)
NM_006765.4(TUSC3):c.255C>T (p.Ser85=)
NM_006765.4(TUSC3):c.309-16C>T
NM_006765.4(TUSC3):c.426+16G>A
NM_006765.4(TUSC3):c.609T>G (p.Ala203=)
NM_006765.4(TUSC3):c.640T>C (p.Leu214=)
NM_006765.4(TUSC3):c.708+16G>T
NM_006765.4(TUSC3):c.867C>T (p.Ala289=)
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=)

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