ClinVar Miner

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

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000539.3(RHO):c.203T>G (p.Leu68Arg) rs137883686 0.00005
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566 0.00001
NM_000539.3(RHO):c.1033G>T (p.Val345Leu) rs104893795
NM_000539.3(RHO):c.1040C>G (p.Pro347Arg) rs29001566
NM_000539.3(RHO):c.158C>G (p.Pro53Arg) rs28933395
NM_000539.3(RHO):c.180C>A (p.Tyr60Ter) rs527236101
NM_000539.3(RHO):c.265G>C (p.Gly89Arg) rs1578278354
NM_000539.3(RHO):c.266G>A (p.Gly89Asp) rs104893772
NM_000539.3(RHO):c.497C>T (p.Ala166Val) rs1578279746
NM_000539.3(RHO):c.509C>G (p.Pro170Arg) rs1553781176
NM_000539.3(RHO):c.511C>T (p.Pro171Ser) rs104893794
NM_000539.3(RHO):c.512C>A (p.Pro171Gln) rs2084776162
NM_000539.3(RHO):c.512C>G (p.Pro171Arg) rs2084776162
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000539.3(RHO):c.560G>A (p.Cys187Tyr) rs1578280588
NM_000539.3(RHO):c.568G>T (p.Asp190Tyr) rs104893779
NM_000539.3(RHO):c.800C>T (p.Pro267Leu) rs104893781
NM_000539.3(RHO):c.83A>G (p.Gln28Arg) rs1553780837
NM_000539.3(RHO):c.888G>T (p.Lys296Asn)
NM_000539.3(RHO):c.908C>G (p.Pro303Arg) rs1578281100
NM_000539.3(RHO):c.934C>T (p.Gln312Ter) rs1578281136
NM_000539.3(RHO):c.979_982del (p.Pro327fs) rs527236102

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