ClinVar Miner

List of variants studied for Cystinosis, atypical nephropathic

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004937.3(CTNS):c.124G>A (p.Val42Ile) rs35086888 0.01867
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe) rs267606754 0.00001
NM_004937.3(CTNS):c.329G>T (p.Gly110Val) rs121908129

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