ClinVar Miner

List of variants studied for Cystinuria by Sydney Genome Diagnostics, Children's Hospital Westmead

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr)	rs79389353	0.00239
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg)	rs121908480	0.00018
NM_014270.5(SLC7A9):c.992C>T (p.Ala331Val)	rs768466784

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