ClinVar Miner

List of variants studied for Retinitis pigmentosa 33 by 3billion

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_014014.5(SNRNP200):c.1616T>A (p.Ile539Asn) rs2104356680
NM_014014.5(SNRNP200):c.2042G>A (p.Arg681His) rs527236113
NM_014014.5(SNRNP200):c.2578C>A (p.Gln860Lys)
NM_014014.5(SNRNP200):c.338A>G (p.Tyr113Cys) rs2063964181

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