ClinVar Miner

List of variants in gene RP1 reported as likely benign for Retinitis pigmentosa 1

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile) rs77775126 0.00985
NM_006269.2(RP1):c.616-6T>C rs186571865 0.00458
NM_006269.2(RP1):c.3132A>C (p.Lys1044Asn) rs35234349 0.00236
NM_006269.2(RP1):c.3826C>T (p.Pro1276Ser) rs151316028 0.00153
NM_006269.2(RP1):c.228C>T (p.Leu76=) rs142600056 0.00073
NM_006269.2(RP1):c.4665A>G (p.Gly1555=) rs929619376 0.00006
NM_006269.2(RP1):c.3504G>A (p.Lys1168=) rs191997072 0.00002
NM_006269.2(RP1):c.2511A>G (p.Gln837=) rs753558619 0.00001
NM_006269.2(RP1):c.615+19C>T rs374595990 0.00001
NM_006269.2(RP1):c.510T>G (p.Val170=) rs1407578080

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