ClinVar Miner

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

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000539.3(RHO):c.316G>A (p.Gly106Arg) rs104893773 0.00002
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566 0.00001
NM_000539.3(RHO):c.50C>T (p.Thr17Met) rs104893769 0.00001
NM_000539.3(RHO):c.152G>T (p.Gly51Val) rs149079952
NM_000539.3(RHO):c.173C>G (p.Thr58Arg) rs28933394
NM_000539.3(RHO):c.328T>C (p.Cys110Arg) rs1578278438
NM_000539.3(RHO):c.329G>A (p.Cys110Tyr) rs104893787
NM_000539.3(RHO):c.341G>T (p.Gly114Val) rs104893788
NM_000539.3(RHO):c.403C>T (p.Arg135Trp) rs104893775
NM_000539.3(RHO):c.404_405delinsTT (p.Arg135Leu) rs886041233
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>T (p.Pro171Leu) rs2084776162
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000539.3(RHO):c.544G>A (p.Gly182Ser) rs104893780
NM_000539.3(RHO):c.620T>G (p.Met207Arg) rs104893782
NM_000539.3(RHO):c.68C>A (p.Pro23His) rs104893768
NM_000539.3(RHO):c.762CAT[2] (p.Ile256del) rs1553781360

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