ClinVar Miner

List of variants in gene combination CTSD, PRADX reported as uncertain significance for Neuronal ceroid lipofuscinosis 10

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001909.5(CTSD):c.154G>A (p.Val52Ile) rs143517230 0.00026
NM_001909.5(CTSD):c.90G>A (p.Thr30=) rs368529527 0.00012
NM_001909.5(CTSD):c.111G>C (p.Ser37=) rs535140505

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