ClinVar Miner

List of variants in gene CTSD reported as pathogenic

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Gene type:
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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001909.5(CTSD):c.685T>A (p.Phe229Ile) rs121912789 0.00006
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu) rs587779409 0.00004
NM_001909.5(CTSD):c.244G>T (p.Glu82Ter) rs1845850847 0.00001
NC_000011.9:g.(?_1774733)_(1785089_?)del
NC_000011.9:g.(?_1785002)_(1785089_?)del
NM_001909.4:c.486-12G>A
NM_001909.5(CTSD):c.1052dup (p.Glu352fs)
NM_001909.5(CTSD):c.1149G>C (p.Trp383Cys) rs121912790
NM_001909.5(CTSD):c.1196G>A (p.Arg399His) rs797045138
NM_001909.5(CTSD):c.17_30dup (p.Leu11fs) rs2133668728
NM_001909.5(CTSD):c.268del (p.Gln90fs) rs752612332
NM_001909.5(CTSD):c.268dup (p.Gln90fs) rs752612332
NM_001909.5(CTSD):c.446G>T (p.Gly149Val) rs797045137
NM_001909.5(CTSD):c.457C>T (p.Gln153Ter)
NM_001909.5(CTSD):c.465dup (p.Val156fs)
NM_001909.5(CTSD):c.468_469del (p.Ser157fs)
NM_001909.5(CTSD):c.51del (p.Ala18fs)
NM_001909.5(CTSD):c.550A>T (p.Lys184Ter)
NM_001909.5(CTSD):c.627_628del (p.Asn209fs)
NM_001909.5(CTSD):c.658C>T (p.Gln220Ter)
NM_001909.5(CTSD):c.718C>T (p.Gln240Ter)
NM_001909.5(CTSD):c.728del (p.Gly243fs)
NM_001909.5(CTSD):c.756dup (p.Lys253fs)
NM_001909.5(CTSD):c.764dup (p.Tyr255Ter) rs786205105
NM_001909.5(CTSD):c.832G>T (p.Glu278Ter)
NM_001909.5(CTSD):c.853del (p.Leu285fs)
NM_001909.5(CTSD):c.908del (p.Gly303fs) rs2133657906
NM_001909.5(CTSD):c.914_947del (p.Val305fs)
NM_001909.5(CTSD):c.949del (p.Ala317fs) rs2133657826
NM_001909.5(CTSD):c.952del (p.Val318fs)
NM_001909.5(CTSD):c.984_985del (p.Pro328_Cys329insTer)

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