ClinVar Miner

List of variants in gene RHO reported as likely pathogenic for Retinal dystrophy

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000539.3(RHO):c.745G>T (p.Glu249Ter) rs104893783 0.00004
NM_000539.3(RHO):c.491C>T (p.Ala164Val) rs104893793 0.00002
NM_000539.3(RHO):c.325G>A (p.Gly109Arg) rs1415160298 0.00001
NM_000539.3(RHO):c.1021G>A (p.Glu341Lys) rs142322202
NM_000539.3(RHO):c.1028G>A (p.Ser343Asn) rs2084801470
NM_000539.3(RHO):c.1034T>A (p.Val345Glu) rs1578281706
NM_000539.3(RHO):c.1045T>C (p.Ter349Gln) rs2084801700
NM_000539.3(RHO):c.172_173delinsTA (p.Thr58Ter) rs2084757329
NM_000539.3(RHO):c.173C>G (p.Thr58Arg) rs28933394
NM_000539.3(RHO):c.263T>C (p.Leu88Pro) rs1057521112
NM_000539.3(RHO):c.316G>T (p.Gly106Trp) rs104893773
NM_000539.3(RHO):c.532T>C (p.Tyr178His) rs2084785435
NM_000539.3(RHO):c.538C>G (p.Pro180Ala) rs1560046837
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000539.3(RHO):c.560G>T (p.Cys187Phe) rs1578280588
NM_000539.3(RHO):c.562G>A (p.Gly188Arg) rs527236100
NM_000539.3(RHO):c.568G>A (p.Asp190Asn) rs104893779
NM_000539.3(RHO):c.569A>G (p.Asp190Gly) rs104893777
NM_000539.3(RHO):c.578C>A (p.Thr193Lys)
NM_000539.3(RHO):c.632A>C (p.His211Pro) rs28933993
NM_000539.3(RHO):c.647T>A (p.Met216Lys) rs984572250
NM_000539.3(RHO):c.647T>G (p.Met216Arg) rs984572250
NM_000539.3(RHO):c.68C>T (p.Pro23Leu) rs104893768
NM_000539.3(RHO):c.918T>A (p.Tyr306Ter)
NM_000539.3(RHO):c.937-2A>G rs1578281565
NM_000539.3(RHO):c.948C>A (p.Cys316Ter)
NM_000539.3(RHO):c.969C>A (p.Cys323Ter) rs142771862

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