ClinVar Miner

List of variants studied for Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NC_000017.11:g.(?_3636418)_(3656815_?)del
NC_000017.11:g.(?_3636418)_(3658185_?)del
NC_000017.11:g.(?_3636418)_(3658195_?)del
NC_000017.11:g.(?_3647424)_(3648951_?)del
NC_000017.11:g.(?_3647434)_(3648941_?)del
NC_000017.11:g.(?_3647444)_(3658175_?)del
NC_000017.11:g.(?_3654988)_(3655362_?)del
NC_000017.11:g.(?_3657995)_(3660744_?)del
NM_004937.3(CTNS):c.1045TTC[1] (p.Phe350del) rs2076255711
NM_004937.3(CTNS):c.552C>T (p.Pro184=) rs2150922782
NM_004937.3(CTNS):c.683G>T (p.Arg228Leu) rs754201055

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