ClinVar Miner

List of variants studied for Cone-rod dystrophy 13 by Baylor Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter) rs192003551 0.00004
NM_020366.4(RPGRIP1):c.191C>T (p.Ser64Phe) rs1880692860
NM_020366.4(RPGRIP1):c.673del (p.His225fs) rs752263228

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