ClinVar Miner

List of variants in gene CTSD reported by Fulgent Genetics, Fulgent Genetics

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Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302 0.00650
NM_001909.5(CTSD):c.828-19A>C rs200047861 0.00494
NM_001909.5(CTSD):c.353-12C>T rs141523461 0.00468
NM_001909.5(CTSD):c.1162G>A (p.Val388Ile) rs202073338 0.00013
NM_001909.5(CTSD):c.630C>T (p.Asn210=) rs375282504 0.00008
NM_001909.5(CTSD):c.717G>A (p.Ala239=) rs368699900 0.00002
NM_001909.5(CTSD):c.716C>T (p.Ala239Val) rs759564989 0.00001
NM_001909.5(CTSD):c.566C>T (p.Thr189Ile) rs1554962634

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