ClinVar Miner

List of variants in gene RCBTB1 reported as likely pathogenic for Retinitis pigmentosa

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_018191.4(RCBTB1):c.973C>T (p.His325Tyr) rs200826424 0.00016
NM_018191.4(RCBTB1):c.919G>A (p.Val307Met) rs368217569 0.00002
NM_018191.4(RCBTB1):c.930G>T (p.Trp310Cys) rs772592456 0.00001
NM_018191.4(RCBTB1):c.1164G>T (p.Leu388Phe) rs879255547

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