ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_000308.3(CTSA):c.-43G>T rs116893852
NM_000308.3(CTSA):c.108G>C (p.Leu36=) rs181943893
NM_000308.3(CTSA):c.1090G>A (p.Val364Met) rs137941635
NM_000308.3(CTSA):c.1113G>A (p.Pro371=) rs74694805
NM_000308.3(CTSA):c.159C>T (p.Ile53=) rs150140984
NM_000308.3(CTSA):c.522C>T (p.Ala174=) rs190565374
NM_000308.3(CTSA):c.934G>A (p.Asp312Asn) rs142892564
NM_000308.4(CTSA):c.*51C>G
NM_000308.4(CTSA):c.1287G>A (p.Lys429=) rs41282776
NM_000308.4(CTSA):c.1356C>A (p.Ile452=) rs1201030038
NM_000308.4(CTSA):c.201G>A (p.Val67=)
NM_000308.4(CTSA):c.414T>C (p.Asp138=)
NM_000308.4(CTSA):c.54G>T (p.Leu18=) rs181943893
NM_001127695.2(CTSA):c.51_54delinsC (p.Leu19del) rs886039898

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