ClinVar Miner

List of variants studied for Neuronal ceroid lipofuscinosis 10 by OMIM

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Total variants: 5
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HGVS dbSNP
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.446G>T (p.Gly149Val) rs797045137
NM_001909.5(CTSD):c.685T>A (p.Phe229Ile) rs121912789
NM_001909.5(CTSD):c.764dup (p.Tyr255Ter) rs786205105

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