ClinVar Miner

List of variants studied for Neuronal ceroid lipofuscinosis 10 by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

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Total variants: 6
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HGVS dbSNP
NM_001909.5(CTSD):c.173C>T (p.Ala58Val) rs17571
NM_001909.5(CTSD):c.189C>T (p.Thr63=) rs114051835
NM_001909.5(CTSD):c.231C>T (p.Ala77=) rs2230067
NM_001909.5(CTSD):c.465T>C (p.Thr155=) rs11555039
NM_001909.5(CTSD):c.639C>G (p.Pro213=) rs146073498
NM_001909.5(CTSD):c.828-17G>A rs78735768

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