ClinVar Miner

List of variants in gene CTSA reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000308.4(CTSA):c.1287G>A (p.Lys429=) rs41282776 0.00321
NM_000308.4(CTSA):c.880G>A (p.Asp294Asn) rs142892564 0.00309
NM_000308.4(CTSA):c.105C>T (p.Ile35=) rs150140984 0.00238
NM_000308.4(CTSA):c.-17G>A rs372800409 0.00003
NM_000308.4(CTSA):c.1267C>T (p.Arg423Cys)
NM_000308.4(CTSA):c.1352C>A (p.Thr451Lys) rs979929353
NM_000308.4(CTSA):c.1384_1407del (p.Asp462_Thr469del) rs2145825232
NM_000308.4(CTSA):c.265A>C (p.Ser89Arg) rs1986980461
NM_000308.4(CTSA):c.318T>C (p.Asp106=)
NM_000308.4(CTSA):c.33GCT[9] (p.Leu19dup) rs72555383
NM_000308.4(CTSA):c.359T>C (p.Ile120Thr) rs1601139705

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