ClinVar Miner

List of variants in gene CTSA reported as pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_000308.3(CTSA):c.1238A>G (p.Tyr413Cys) rs137854543
NM_000308.3(CTSA):c.200A>G (p.Gln67Arg) rs137854541
NM_000308.3(CTSA):c.247T>C (p.Trp83Arg) rs28934603
NM_000308.3(CTSA):c.284del (p.Pro95fs) rs587779402
NM_000308.3(CTSA):c.323C>T (p.Ser108Leu) rs137854542
NM_000308.3(CTSA):c.448G>A (p.Val150Met) rs137854545
NM_000308.3(CTSA):c.571_572del (p.Phe191fs) rs769812697
NM_000308.3(CTSA):c.746+3A>G rs786200859
NM_000308.3(CTSA):c.799T>A (p.Tyr267Asn) rs137854544
NM_000308.3(CTSA):c.887_888del (p.Tyr296fs) rs875989777
NM_000308.4(CTSA):c.1123C>T (p.Arg375Ter)
NM_000308.4(CTSA):c.497del (p.Glu166fs)
NM_000308.4(CTSA):c.60del (p.Ser21fs)
NM_000308.4(CTSA):c.990dup (p.Cys331fs)
NM_000308.4(CTSA):c.991del (p.Cys331fs)

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