ClinVar Miner

List of variants in gene CTSA reported by OMIM

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000308.4(CTSA):c.745T>A (p.Tyr249Asn) rs137854544 0.00005
NM_000308.4(CTSA):c.1315G>A (p.Gly439Ser) rs137854547 0.00003
NM_000308.4(CTSA):c.1318T>G (p.Phe440Val) rs137854540 0.00002
NM_000308.4(CTSA):c.146A>G (p.Gln49Arg) rs137854541 0.00001
NM_000308.4(CTSA):c.394G>A (p.Val132Met) rs137854545 0.00001
NM_000308.4(CTSA):c.1184A>G (p.Tyr395Cys) rs137854543
NM_000308.4(CTSA):c.1217T>C (p.Met406Thr) rs137854548
NM_000308.4(CTSA):c.1357A>G (p.Lys453Glu) rs137854549
NM_000308.4(CTSA):c.193T>C (p.Trp65Arg) rs28934603
NM_000308.4(CTSA):c.269C>T (p.Ser90Leu) rs137854542
NM_000308.4(CTSA):c.517_518del (p.Phe173fs) rs769812697
NM_000308.4(CTSA):c.692+3A>G rs786200859
NM_000308.4(CTSA):c.777+9C>G rs1337995343
NM_001127695.1(CTSA):c.707T>C (p.Leu236Pro) rs137854546

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