ClinVar Miner

List of variants reported as pathogenic for Cystinuria by 3billion

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000341.4(SLC3A1):c.1093C>T (p.Arg365Trp)	rs765828196	0.00005
NM_014270.5(SLC7A9):c.730del (p.Glu244fs)	rs760452532	0.00001
NM_000341.4(SLC3A1):c.1094G>T (p.Arg365Leu)	rs567478582

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