ClinVar Miner

List of variants in gene RHO reported as likely pathogenic

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Gene type:
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Total variants: 117
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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.745G>T (p.Glu249Ter) rs104893783 0.00004
NM_000539.3(RHO):c.759G>T (p.Met253Ile) rs756658659 0.00004
NM_000539.3(RHO):c.316G>A (p.Gly106Arg) rs104893773 0.00002
NM_000539.3(RHO):c.491C>T (p.Ala164Val) rs104893793 0.00002
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566 0.00001
NM_000539.3(RHO):c.131T>C (p.Met44Thr) rs774336493 0.00001
NM_000539.3(RHO):c.325G>A (p.Gly109Arg) rs1415160298 0.00001
NM_000539.3(RHO):c.551A>G (p.Gln184Arg) rs1402468701 0.00001
NM_000539.3(RHO):c.696+1G>C rs749356883 0.00001
NM_000539.3(RHO):c.730C>T (p.Gln244Ter) rs1273934052 0.00001
NM_000539.3(RHO):c.936+1G>T rs776014770 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.1033G>A (p.Val345Met) rs104893795
NM_000539.3(RHO):c.1033G>T (p.Val345Leu) rs104893795
NM_000539.3(RHO):c.1034T>A (p.Val345Glu) rs1578281706
NM_000539.3(RHO):c.1034T>C (p.Val345Ala) rs1578281706
NM_000539.3(RHO):c.1040C>G (p.Pro347Arg) rs29001566
NM_000539.3(RHO):c.1045T>C (p.Ter349Gln) rs2084801700
NM_000539.3(RHO):c.116T>G (p.Met39Arg) rs2084756915
NM_000539.3(RHO):c.158C>G (p.Pro53Arg) rs28933395
NM_000539.3(RHO):c.165C>A (p.Asn55Lys) rs1312862210
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.180C>A (p.Tyr60Ter) rs527236101
NM_000539.3(RHO):c.204_215del (p.Arg69_Leu72del) rs2084757679
NM_000539.3(RHO):c.232A>T (p.Asn78Tyr) rs1248203737
NM_000539.3(RHO):c.251T>C (p.Leu84Pro) rs2108749285
NM_000539.3(RHO):c.259G>T (p.Val87Phe)
NM_000539.3(RHO):c.260T>A (p.Val87Asp) rs104893771
NM_000539.3(RHO):c.263T>C (p.Leu88Pro) rs1057521112
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.281C>T (p.Thr94Ile) rs104893796
NM_000539.3(RHO):c.284T>C (p.Leu95Pro) rs2084758666
NM_000539.3(RHO):c.316G>T (p.Gly106Trp) rs104893773
NM_000539.3(RHO):c.317G>C (p.Gly106Ala) rs1578278417
NM_000539.3(RHO):c.317G>T (p.Gly106Val) rs1578278417
NM_000539.3(RHO):c.328T>C (p.Cys110Arg) rs1578278438
NM_000539.3(RHO):c.328T>G (p.Cys110Gly) rs1578278438
NM_000539.3(RHO):c.329G>T (p.Cys110Phe)
NM_000539.3(RHO):c.330C>G (p.Cys110Trp)
NM_000539.3(RHO):c.353_361+3del rs2084759300
NM_000539.3(RHO):c.361+1G>A
NM_000539.3(RHO):c.362G>T (p.Gly121Val) rs2084774644
NM_000539.3(RHO):c.380C>T (p.Ser127Phe) rs2108749921
NM_000539.3(RHO):c.392T>C (p.Leu131Pro) rs1553781140
NM_000539.3(RHO):c.392T>G (p.Leu131Arg)
NM_000539.3(RHO):c.400G>A (p.Glu134Lys)
NM_000539.3(RHO):c.408C>A (p.Tyr136Ter) rs200248198
NM_000539.3(RHO):c.448G>A (p.Glu150Lys) rs104893791
NM_000539.3(RHO):c.44A>T (p.Asn15Ile) rs104893786
NM_000539.3(RHO):c.45T>A (p.Asn15Lys) rs1578278088
NM_000539.3(RHO):c.45T>G (p.Asn15Lys) rs1578278088
NM_000539.3(RHO):c.481T>C (p.Trp161Arg) rs2108749979
NM_000539.3(RHO):c.489G>A (p.Met163Ile)
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.50C>A (p.Thr17Lys) rs104893769
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.512C>T (p.Pro171Leu) rs2084776162
NM_000539.3(RHO):c.527C>T (p.Ser176Phe) rs2084776365
NM_000539.3(RHO):c.530+1G>C rs2108750013
NM_000539.3(RHO):c.532T>C (p.Tyr178His) rs2084785435
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.538C>G (p.Pro180Ala) rs1560046837
NM_000539.3(RHO):c.539C>G (p.Pro180Arg) rs2084785483
NM_000539.3(RHO):c.539C>T (p.Pro180Leu) rs2084785483
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000539.3(RHO):c.545_546delinsAA (p.Gly182Glu) rs2084785588
NM_000539.3(RHO):c.553T>C (p.Cys185Arg) rs1236550448
NM_000539.3(RHO):c.559T>C (p.Cys187Arg) rs2084785760
NM_000539.3(RHO):c.560G>A (p.Cys187Tyr) rs1578280588
NM_000539.3(RHO):c.560G>C (p.Cys187Ser) rs1578280588
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.563G>A (p.Gly188Glu) rs1424131846
NM_000539.3(RHO):c.568G>A (p.Asp190Asn) rs104893779
NM_000539.3(RHO):c.568G>C (p.Asp190His) 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.571T>A (p.Tyr191Asn) rs1578280614
NM_000539.3(RHO):c.578C>A (p.Thr193Lys)
NM_000539.3(RHO):c.632A>C (p.His211Pro) rs28933993
NM_000539.3(RHO):c.643C>G (p.Pro215Ala) rs2108750367
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.673C>T (p.Gln225Ter) rs752076372
NM_000539.3(RHO):c.677T>C (p.Leu226Pro) rs2084786958
NM_000539.3(RHO):c.67C>A (p.Pro23Thr)
NM_000539.3(RHO):c.67C>T (p.Pro23Ser) rs104893797
NM_000539.3(RHO):c.68C>T (p.Pro23Leu) rs104893768
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.810C>A (p.Ser270Arg) rs768210562
NM_000539.3(RHO):c.83A>G (p.Gln28Arg) rs1553780837
NM_000539.3(RHO):c.851G>A (p.Gly284Asp) rs2084791045
NM_000539.3(RHO):c.886A>C (p.Lys296Gln) rs29001653
NM_000539.3(RHO):c.888G>T (p.Lys296Asn)
NM_000539.3(RHO):c.908C>G (p.Pro303Arg) rs1578281100
NM_000539.3(RHO):c.918T>A (p.Tyr306Ter)
NM_000539.3(RHO):c.929del (p.Asn310fs) rs2084793386
NM_000539.3(RHO):c.934C>T (p.Gln312Ter) rs1578281136
NM_000539.3(RHO):c.937-1G>C rs2084800561
NM_000539.3(RHO):c.937-2A>C rs1578281565
NM_000539.3(RHO):c.937-2A>G rs1578281565
NM_000539.3(RHO):c.946del (p.Cys316fs) rs1064793749
NM_000539.3(RHO):c.948C>A (p.Cys316Ter)
NM_000539.3(RHO):c.953_955del (p.Leu318_Thr319delinsPro) rs2084800683
NM_000539.3(RHO):c.969C>A (p.Cys323Ter) rs142771862
NM_000539.3(RHO):c.977del (p.Asn326fs) rs2084800900
NM_000539.3(RHO):c.979_980del (p.Pro327fs) rs1578281625
NM_000539.3(RHO):c.979_982del (p.Pro327fs) rs527236102

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