ClinVar Miner

List of variants in gene CTSD reported as benign for Neuronal ceroid lipofuscinosis 10

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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001909.5(CTSD):c.*67A>G rs12214 0.21384
NM_001909.5(CTSD):c.*597A>C rs8839 0.14604
NM_001909.5(CTSD):c.465T>C (p.Thr155=) rs11555039 0.08387
NM_001909.5(CTSD):c.231C>T (p.Ala77=) rs2230067 0.06127
NM_001909.5(CTSD):c.828-17G>A rs78735768 0.05315
NM_001909.5(CTSD):c.*300G>A rs113940256 0.01455
NM_001909.5(CTSD):c.1215C>A (p.Gly405=) rs138733377 0.01277
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302 0.00650
NM_001909.5(CTSD):c.1072-7G>A rs149019571 0.00560
NM_001909.5(CTSD):c.*19G>A rs201434721 0.00493
NM_001909.5(CTSD):c.353-12C>T rs141523461 0.00468
NM_001909.5(CTSD):c.951C>T (p.Ala317=) rs78306946 0.00211
NM_001909.5(CTSD):c.827+111del rs55725229

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