ClinVar Miner

List of variants in gene RP1 reported by Faculty of Health Sciences, Beirut Arab University

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_006269.2(RP1):c.1012C>T (p.Arg338Ter) rs1805984836
NM_006269.2(RP1):c.1719_1723del (p.Ser574fs) rs750542962
NM_006269.2(RP1):c.3396G>A (p.Trp1132Ter) rs561075447
NM_006269.2(RP1):c.3428del (p.Asn1143fs) rs1806088809
NM_006269.2(RP1):c.3544_3545insAGAAAAGCTG (p.Ala1182fs) rs1806096563
NM_006269.2(RP1):c.3677_3678dup (p.Glu1227fs) rs1806103875
NM_006269.2(RP1):c.4242_4243del (p.His1414fs) rs767436678
NM_006269.2(RP1):c.4552A>T (p.Lys1518Ter) rs1806144355
NM_006269.2(RP1):c.606C>A (p.Asp202Glu) rs1805879513
NM_006269.2(RP1):c.662del (p.Ala221fs) rs1805900125

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