ClinVar Miner

List of variants studied for Retinitis pigmentosa 54 by OMIM

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001029883.3(PCARE):c.2756_2768del (p.Lys919fs) rs794728002
NM_001029883.3(PCARE):c.556C>T (p.Gln186Ter) rs267606691
NM_001029883.3(PCARE):c.601A>T (p.Ile201Phe) rs267606690
NM_001029883.3(PCARE):c.759G>A (p.Trp253Ter) rs2148416762
NM_001029883.3(PCARE):c.947del (p.Asn316fs) rs779886453

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