ClinVar Miner

List of variants studied for Retinitis pigmentosa 7 by 3billion

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000322.5(PRPH2):c.625G>A (p.Val209Ile) rs753657349 0.00002
NM_000322.5(PRPH2):c.410G>A (p.Gly137Asp) rs527236097
NM_000322.5(PRPH2):c.518A>C (p.Asp173Ala) rs61755794
NM_000322.5(PRPH2):c.535T>C (p.Trp179Arg) rs61755796
NM_000322.5(PRPH2):c.745G>A (p.Gly249Ser) rs2152005248

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