ClinVar Miner

List of variants studied for Neuronal ceroid lipofuscinosis 10 by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001909.5(CTSD):c.465T>C (p.Thr155=) rs11555039 0.08387
NM_001909.5(CTSD):c.173C>T (p.Ala58Val) rs17571 0.06134
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.189C>T (p.Thr63=) rs114051835 0.01221
NM_001909.5(CTSD):c.639C>G (p.Pro213=) rs146073498 0.00197

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