ClinVar Miner

List of variants reported as pathogenic for Retinitis pigmentosa 4

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_000539.3(RHO):c.133T>C (p.Phe45Leu) rs104893770 0.00006
NM_000539.3(RHO):c.53G>A (p.Gly18Asp) rs200946638 0.00003
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.325G>A (p.Gly109Arg) rs1415160298 0.00001
NM_000539.3(RHO):c.50C>T (p.Thr17Met) rs104893769 0.00001
NM_000539.3(RHO):c.936+1G>T rs776014770 0.00001
NM_000539.3(RHO):c.1030C>T (p.Gln344Ter) rs104893778
NM_000539.3(RHO):c.1033G>A (p.Val345Met) rs104893795
NM_000539.3(RHO):c.1033G>C (p.Val345Leu) rs104893795
NM_000539.3(RHO):c.1039C>T (p.Pro347Ser) rs29001637
NM_000539.3(RHO):c.1040C>A (p.Pro347Gln) rs29001566
NM_000539.3(RHO):c.1040C>G (p.Pro347Arg) rs29001566
NM_000539.3(RHO):c.1040del (p.Pro347fs) rs2084801618
NM_000539.3(RHO):c.151G>C (p.Gly51Arg) rs104893792
NM_000539.3(RHO):c.158C>G (p.Pro53Arg) rs28933395
NM_000539.3(RHO):c.173C>G (p.Thr58Arg) rs28933394
NM_000539.3(RHO):c.204_215del (p.Arg69_Leu72del) rs2084757679
NM_000539.3(RHO):c.260T>A (p.Val87Asp) rs104893771
NM_000539.3(RHO):c.266G>A (p.Gly89Asp) rs104893772
NM_000539.3(RHO):c.302G>T (p.Gly101Val) rs759945007
NM_000539.3(RHO):c.316G>T (p.Gly106Trp) rs104893773
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>A (p.Gly114Asp) rs104893788
NM_000539.3(RHO):c.403C>T (p.Arg135Trp) rs104893775
NM_000539.3(RHO):c.404G>T (p.Arg135Leu) rs104893774
NM_000539.3(RHO):c.44A>G (p.Asn15Ser) rs104893786
NM_000539.3(RHO):c.491C>A (p.Ala164Glu) rs104893793
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>T (p.Pro171Leu) rs2084776162
NM_000539.3(RHO):c.533A>G (p.Tyr178Cys) rs104893776
NM_000539.3(RHO):c.538C>A (p.Pro180Thr) rs1560046837
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.557C>G (p.Ser186Trp) rs371288618
NM_000539.3(RHO):c.563G>A (p.Gly188Glu) rs1424131846
NM_000539.3(RHO):c.568G>A (p.Asp190Asn) rs104893779
NM_000539.3(RHO):c.568G>T (p.Asp190Tyr) rs104893779
NM_000539.3(RHO):c.569A>G (p.Asp190Gly) rs104893777
NM_000539.3(RHO):c.620T>G (p.Met207Arg) rs104893782
NM_000539.3(RHO):c.632A>C (p.His211Pro) rs28933993
NM_000539.3(RHO):c.67C>G (p.Pro23Ala) rs104893797
NM_000539.3(RHO):c.68C>A (p.Pro23His) rs104893768
NM_000539.3(RHO):c.762CAT[2] (p.Ile256del) rs1553781360
NM_000539.3(RHO):c.789CTG[1] (p.Cys264del) rs121918590
NM_000539.3(RHO):c.800C>T (p.Pro267Leu) rs104893781
NM_000539.3(RHO):c.886A>G (p.Lys296Glu) rs29001653
NM_000539.3(RHO):c.888G>C (p.Lys296Asn) rs2084793009
NM_000539.3(RHO):c.937-2A>G rs1578281565
NM_000539.3(RHO):c.937-2A>T rs1578281565

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