ClinVar Miner

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

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_006269.2(RP1):c.4250T>C (p.Leu1417Pro) rs139294220 0.00204
NM_006269.2(RP1):c.279G>T (p.Thr93=) rs144293929 0.00184
NM_006269.2(RP1):c.3826C>T (p.Pro1276Ser) rs151316028 0.00153
NM_006269.2(RP1):c.2385C>T (p.Ile795=) rs184739468 0.00105
NM_006269.2(RP1):c.-106G>A rs142681427 0.00094
NM_006269.2(RP1):c.487G>A (p.Asp163Asn) rs370436803 0.00074
NM_006269.2(RP1):c.6196G>A (p.Asp2066Asn) rs149282954 0.00040
NM_006269.2(RP1):c.912G>T (p.Lys304Asn) rs189145468 0.00025
NM_006269.2(RP1):c.2938G>A (p.Gly980Ser) rs202226256 0.00014
NM_006269.2(RP1):c.2894G>T (p.Ser965Ile) rs201110322 0.00009
NM_006269.2(RP1):c.1380G>C (p.Lys460Asn) rs143494598 0.00005

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