ClinVar Miner

List of variants in gene TUSC3 reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_006765.4(TUSC3):c.38C>T (p.Ala13Val) rs200808372 0.00054
NM_006765.4(TUSC3):c.19C>T (p.Pro7Ser) rs201741917 0.00016
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.187C>T (p.Arg63Cys) rs751785405 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.31A>G (p.Arg11Gly) rs778667759 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.116G>T (p.Gly39Val)
NM_006765.4(TUSC3):c.142C>A (p.Leu48Ile)
NM_006765.4(TUSC3):c.221G>A (p.Arg74Gln)
NM_006765.4(TUSC3):c.238C>G (p.Pro80Ala)
NM_006765.4(TUSC3):c.44G>A (p.Arg15Gln)
NM_006765.4(TUSC3):c.53G>A (p.Arg18Gln) rs2129132447
NM_006765.4(TUSC3):c.581G>C (p.Arg194Thr)
NM_006765.4(TUSC3):c.670T>G (p.Phe224Val) rs1807455847
NM_006765.4(TUSC3):c.85C>T (p.Leu29Phe)
NM_006765.4(TUSC3):c.863A>T (p.Asn288Ile)
NM_006765.4(TUSC3):c.868G>A (p.Ala290Thr)

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