ClinVar Miner

List of variants in gene RHO reported as uncertain significance

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 273
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HGVS dbSNP gnomAD frequency
NM_000539.3(RHO):c.480C>A (p.Thr160=) rs151063543 0.00180
NM_000539.3(RHO):c.*1455T>C rs552362456 0.00096
NM_000539.3(RHO):c.*1599G>A rs576980794 0.00086
NM_000539.3(RHO):c.*948T>C rs529674071 0.00046
NM_000539.3(RHO):c.*1179T>C rs569761830 0.00042
NM_000539.3(RHO):c.*741T>C rs753496233 0.00041
NM_000539.3(RHO):c.439C>T (p.Arg147Cys) rs200165530 0.00040
NM_000539.3(RHO):c.209C>T (p.Thr70Met) rs143559914 0.00031
NM_000539.3(RHO):c.919A>T (p.Ile307Phe) rs771322615 0.00026
NM_000539.3(RHO):c.630C>T (p.Val210=) rs371192803 0.00020
NM_000539.3(RHO):c.310G>A (p.Val104Ile) rs144317206 0.00015
NM_000539.3(RHO):c.*1255T>C rs774496991 0.00013
NM_000539.3(RHO):c.299A>G (p.His100Arg) rs143735182 0.00011
NM_000539.3(RHO):c.578C>T (p.Thr193Met) rs373974298 0.00011
NM_000539.3(RHO):c.959C>A (p.Thr320Asn) rs138831590 0.00011
NM_000539.3(RHO):c.361+10G>A rs372128112 0.00010
NM_000539.3(RHO):c.744G>A (p.Lys248=) rs141185480 0.00010
NM_000539.3(RHO):c.173C>T (p.Thr58Met) rs28933394 0.00008
NM_000539.3(RHO):c.399C>A (p.Ile133=) rs372812523 0.00008
NM_000539.3(RHO):c.*551G>A rs933661466 0.00006
NM_000539.3(RHO):c.133T>C (p.Phe45Leu) rs104893770 0.00006
NM_000539.3(RHO):c.47C>T (p.Ala16Val) rs201340914 0.00006
NM_000539.3(RHO):c.505G>A (p.Ala169Thr) rs377687329 0.00006
NM_000539.3(RHO):c.*285G>A rs1487459358 0.00005
NM_000539.3(RHO):c.178T>C (p.Tyr60His) rs771007146 0.00005
NM_000539.3(RHO):c.203T>G (p.Leu68Arg) rs137883686 0.00005
NM_000539.3(RHO):c.593T>C (p.Val198Ala) rs1374343616 0.00005
NM_000539.3(RHO):c.697-11G>A rs367631575 0.00005
NM_000539.3(RHO):c.925A>T (p.Met309Leu) rs146391463 0.00005
NM_000539.3(RHO):c.1025C>T (p.Thr342Met) rs183318466 0.00004
NM_000539.3(RHO):c.145G>A (p.Val49Met) rs534819675 0.00004
NM_000539.3(RHO):c.362-10T>C rs568571580 0.00004
NM_000539.3(RHO):c.587C>T (p.Pro196Leu) rs141468335 0.00004
NM_000539.3(RHO):c.625G>A (p.Val209Met) rs567288669 0.00004
NM_000539.3(RHO):c.660T>G (p.Phe220Leu) rs141956356 0.00004
NM_000539.3(RHO):c.759G>T (p.Met253Ile) rs756658659 0.00004
NM_000539.3(RHO):c.826T>G (p.Phe276Val) rs766943400 0.00004
NM_000539.3(RHO):c.*115G>A rs886057969 0.00003
NM_000539.3(RHO):c.*1294A>G rs1047324551 0.00003
NM_000539.3(RHO):c.*440C>G rs886057971 0.00003
NM_000539.3(RHO):c.187G>A (p.Val63Ile) rs146936681 0.00003
NM_000539.3(RHO):c.361G>A (p.Gly121Ser) rs771637224 0.00003
NM_000539.3(RHO):c.440G>A (p.Arg147His) rs746468201 0.00003
NM_000539.3(RHO):c.53G>A (p.Gly18Asp) rs200946638 0.00003
NM_000539.3(RHO):c.913A>C (p.Ile305Leu) rs199701338 0.00003
NM_000539.3(RHO):c.941G>A (p.Arg314Gln) rs753609310 0.00003
NM_000539.3(RHO):c.103T>C (p.Trp35Arg) rs1259844494 0.00002
NM_000539.3(RHO):c.205C>T (p.Arg69Cys) rs761101263 0.00002
NM_000539.3(RHO):c.219C>A (p.Asn73Lys) rs374902462 0.00002
NM_000539.3(RHO):c.242T>C (p.Val81Ala) rs745643650 0.00002
NM_000539.3(RHO):c.445G>A (p.Gly149Arg) rs780408367 0.00002
NM_000539.3(RHO):c.502G>A (p.Ala168Thr) rs574202023 0.00002
NM_000539.3(RHO):c.518C>A (p.Ala173Asp) rs1461270517 0.00002
NM_000539.3(RHO):c.697-18G>A rs746773592 0.00002
NC_000003.12:g.129525787C>T rs1458486943 0.00001
NM_000539.3(RHO):c.*1144C>T rs886057977 0.00001
NM_000539.3(RHO):c.1009G>A (p.Val337Met) rs201989308 0.00001
NM_000539.3(RHO):c.124G>A (p.Ala42Thr) rs538820015 0.00001
NM_000539.3(RHO):c.14A>G (p.Glu5Gly) rs144270441 0.00001
NM_000539.3(RHO):c.175C>T (p.Leu59Phe) rs777849735 0.00001
NM_000539.3(RHO):c.185C>A (p.Thr62Asn) rs769464362 0.00001
NM_000539.3(RHO):c.229C>T (p.Leu77Phe) rs1405507439 0.00001
NM_000539.3(RHO):c.335T>C (p.Leu112Ser) rs371461422 0.00001
NM_000539.3(RHO):c.357G>A (p.Leu119=) rs1476531540 0.00001
NM_000539.3(RHO):c.404G>A (p.Arg135Gln) rs104893774 0.00001
NM_000539.3(RHO):c.409G>A (p.Val137Met) rs778626065 0.00001
NM_000539.3(RHO):c.452A>G (p.Asn151Ser) rs1381050525 0.00001
NM_000539.3(RHO):c.458C>T (p.Ala153Val) rs1418964117 0.00001
NM_000539.3(RHO):c.464T>C (p.Met155Thr) rs762290223 0.00001
NM_000539.3(RHO):c.48G>A (p.Ala16=) rs766112074 0.00001
NM_000539.3(RHO):c.514C>T (p.Leu172Phe) rs769236224 0.00001
NM_000539.3(RHO):c.520G>A (p.Gly174Ser) rs527236103 0.00001
NM_000539.3(RHO):c.524G>T (p.Trp175Leu) rs760894205 0.00001
NM_000539.3(RHO):c.530+5T>C rs759637818 0.00001
NM_000539.3(RHO):c.541G>C (p.Glu181Gln) rs775557680 0.00001
NM_000539.3(RHO):c.551A>G (p.Gln184Arg) rs1402468701 0.00001
NM_000539.3(RHO):c.58G>A (p.Val20Ile) rs370401948 0.00001
NM_000539.3(RHO):c.62G>A (p.Arg21His) rs552455660 0.00001
NM_000539.3(RHO):c.670G>A (p.Gly224Arg) rs759021503 0.00001
NM_000539.3(RHO):c.671G>A (p.Gly224Glu) rs764633076 0.00001
NM_000539.3(RHO):c.710A>T (p.Gln237Leu) rs774809893 0.00001
NM_000539.3(RHO):c.732G>A (p.Gln244=) rs148222991 0.00001
NM_000539.3(RHO):c.73G>A (p.Glu25Lys) rs774425557 0.00001
NM_000539.3(RHO):c.754C>T (p.Arg252Cys) rs752805805 0.00001
NM_000539.3(RHO):c.783C>A (p.Phe261Leu) rs199583468 0.00001
NM_000539.3(RHO):c.87C>T (p.Tyr29=) rs149084537 0.00001
NM_000539.3(RHO):c.892G>A (p.Ala298Thr) rs781237162 0.00001
NM_000539.3(RHO):c.962T>A (p.Ile321Asn) rs1316267671 0.00001
NM_000539.3(RHO):c.*139_*140del rs796098464
NM_000539.3(RHO):c.*1454G>A rs2084812090
NM_000539.3(RHO):c.*224C>T rs886057970
NM_000539.3(RHO):c.*26C>T rs773347364
NM_000539.3(RHO):c.*276C>T rs759322778
NM_000539.3(RHO):c.*406G>C rs2084804479
NM_000539.3(RHO):c.*40C>T rs886057968
NM_000539.3(RHO):c.*542G>A rs369408405
NM_000539.3(RHO):c.*573C>T rs2084806235
NM_000539.3(RHO):c.*633G>A rs886057972
NM_000539.3(RHO):c.*645G>C rs886057973
NM_000539.3(RHO):c.*670A>C rs2084806843
NM_000539.3(RHO):c.*679A>G rs1359424642
NM_000539.3(RHO):c.*815G>T rs2084807511
NM_000539.3(RHO):c.*838A>T rs886057974
NM_000539.3(RHO):c.*887G>C rs886057975
NM_000539.3(RHO):c.*959A>G rs368910470
NM_000539.3(RHO):c.*970C>T rs886057976
NM_000539.3(RHO):c.-24G>T rs771188148
NM_000539.3(RHO):c.1010del (p.Val337fs) rs2084801221
NM_000539.3(RHO):c.1012_*11del (p.Ser338fs)
NM_000539.3(RHO):c.1015A>T (p.Lys339Ter) rs2084801237
NM_000539.3(RHO):c.101C>T (p.Pro34Leu) rs2108749194
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.1030C>G (p.Gln344Glu) rs104893778
NM_000539.3(RHO):c.1032G>C (p.Gln344His) rs749753555
NM_000539.3(RHO):c.1036G>A (p.Ala346Thr) rs2084801591
NM_000539.3(RHO):c.1043C>T (p.Ala348Val) rs1187838977
NM_000539.3(RHO):c.115A>G (p.Met39Val)
NM_000539.3(RHO):c.11C>A (p.Thr4Lys)
NM_000539.3(RHO):c.121G>A (p.Ala41Thr)
NM_000539.3(RHO):c.128A>G (p.Tyr43Cys)
NM_000539.3(RHO):c.130A>C (p.Met44Leu)
NM_000539.3(RHO):c.16G>A (p.Gly6Ser) rs145024369
NM_000539.3(RHO):c.176T>G (p.Leu59Arg) rs2108749238
NM_000539.3(RHO):c.194A>G (p.His65Arg) rs2084757607
NM_000539.3(RHO):c.194A>T (p.His65Leu) rs2084757607
NM_000539.3(RHO):c.194_205del (p.His65_Leu68del)
NM_000539.3(RHO):c.1A>G (p.Met1Val)
NM_000539.3(RHO):c.211C>T (p.Pro71Ser) rs1305158106
NM_000539.3(RHO):c.218A>G (p.Asn73Ser) rs779169631
NM_000539.3(RHO):c.223A>G (p.Ile75Val)
NM_000539.3(RHO):c.226C>T (p.Leu76=)
NM_000539.3(RHO):c.233A>T (p.Asn78Ile)
NM_000539.3(RHO):c.238G>T (p.Ala80Ser) rs1176212506
NM_000539.3(RHO):c.242_244del (p.Val81del) rs2084758319
NM_000539.3(RHO):c.25T>G (p.Phe9Val) rs2108749130
NM_000539.3(RHO):c.273C>T (p.Phe91=)
NM_000539.3(RHO):c.274A>G (p.Thr92Ala) rs768298431
NM_000539.3(RHO):c.277A>C (p.Ser93Arg)
NM_000539.3(RHO):c.279C>G (p.Ser93Arg) rs773808406
NM_000539.3(RHO):c.27C>A (p.Phe9Leu) rs1361105199
NM_000539.3(RHO):c.282C>G (p.Thr94=)
NM_000539.3(RHO):c.284T>C (p.Leu95Pro) rs2084758666
NM_000539.3(RHO):c.296T>C (p.Leu99Pro)
NM_000539.3(RHO):c.299A>C (p.His100Pro)
NM_000539.3(RHO):c.302G>A (p.Gly101Glu)
NM_000539.3(RHO):c.302G>T (p.Gly101Val) rs759945007
NM_000539.3(RHO):c.304T>A (p.Tyr102Asn) rs2084758850
NM_000539.3(RHO):c.319C>T (p.Pro107Ser)
NM_000539.3(RHO):c.31G>A (p.Val11Met) rs1251088622
NM_000539.3(RHO):c.322A>G (p.Thr108Ala)
NM_000539.3(RHO):c.347T>A (p.Phe116Tyr)
NM_000539.3(RHO):c.355C>G (p.Leu119Val)
NM_000539.3(RHO):c.35C>G (p.Pro12Arg) rs1198077854
NM_000539.3(RHO):c.360C>A (p.Gly120=) rs79765751
NM_000539.3(RHO):c.361+5G>A rs2084759494
NM_000539.3(RHO):c.362-11_362-10delinsAA
NM_000539.3(RHO):c.36del (p.Phe13fs) rs1172673857
NM_000539.3(RHO):c.380C>A (p.Ser127Tyr)
NM_000539.3(RHO):c.380C>T (p.Ser127Phe) rs2108749921
NM_000539.3(RHO):c.38T>C (p.Phe13Ser)
NM_000539.3(RHO):c.406T>C (p.Tyr136His) rs2084775038
NM_000539.3(RHO):c.419G>C (p.Cys140Ser) rs2084775122
NM_000539.3(RHO):c.428T>A (p.Met143Lys) rs752496804
NM_000539.3(RHO):c.436T>A (p.Phe146Ile) rs1222453447
NM_000539.3(RHO):c.43A>G (p.Asn15Asp)
NM_000539.3(RHO):c.443T>C (p.Phe148Ser)
NM_000539.3(RHO):c.450G>C (p.Glu150Asp)
NM_000539.3(RHO):c.458C>A (p.Ala153Asp) rs1418964117
NM_000539.3(RHO):c.467G>T (p.Gly156Val) rs557301477
NM_000539.3(RHO):c.502G>C (p.Ala168Pro)
NM_000539.3(RHO):c.511C>A (p.Pro171Thr)
NM_000539.3(RHO):c.515T>C (p.Leu172Pro) rs2084776200
NM_000539.3(RHO):c.517G>C (p.Ala173Pro) rs139731264
NM_000539.3(RHO):c.518C>T (p.Ala173Val)
NM_000539.3(RHO):c.520G>C (p.Gly174Arg)
NM_000539.3(RHO):c.536T>A (p.Ile179Asn)
NM_000539.3(RHO):c.53G>C (p.Gly18Ala)
NM_000539.3(RHO):c.53G>T (p.Gly18Val) rs200946638
NM_000539.3(RHO):c.554G>A (p.Cys185Tyr)
NM_000539.3(RHO):c.557C>T (p.Ser186Leu) rs371288618
NM_000539.3(RHO):c.560G>C (p.Cys187Ser) rs1578280588
NM_000539.3(RHO):c.568G>C (p.Asp190His) rs104893779
NM_000539.3(RHO):c.571T>G (p.Tyr191Asp) rs1578280614
NM_000539.3(RHO):c.586C>A (p.Pro196Thr) rs765931092
NM_000539.3(RHO):c.58G>C (p.Val20Leu)
NM_000539.3(RHO):c.595AAC[1] (p.Asn200del)
NM_000539.3(RHO):c.608T>C (p.Phe203Ser) rs2108750351
NM_000539.3(RHO):c.613A>G (p.Ile205Val) rs1001583714
NM_000539.3(RHO):c.614T>G (p.Ile205Ser) rs886057967
NM_000539.3(RHO):c.617A>C (p.Tyr206Ser)
NM_000539.3(RHO):c.62G>C (p.Arg21Pro)
NM_000539.3(RHO):c.631C>T (p.His211Tyr) rs2084786563
NM_000539.3(RHO):c.641T>A (p.Ile214Asn)
NM_000539.3(RHO):c.649A>T (p.Ile217Phe) rs1299366616
NM_000539.3(RHO):c.659T>G (p.Phe220Cys)
NM_000539.3(RHO):c.66C>A (p.Ser22Arg) rs749567084
NM_000539.3(RHO):c.677T>C (p.Leu226Pro) rs2084786958
NM_000539.3(RHO):c.679G>A (p.Val227Ile)
NM_000539.3(RHO):c.681C>T (p.Val227=)
NM_000539.3(RHO):c.683T>C (p.Phe228Ser)
NM_000539.3(RHO):c.696+12G>A rs55915536
NM_000539.3(RHO):c.696+5G>A rs376802160
NM_000539.3(RHO):c.696+5G>C rs376802160
NM_000539.3(RHO):c.697-3C>A rs2108750429
NM_000539.3(RHO):c.703G>A (p.Ala235Thr) rs2108750434
NM_000539.3(RHO):c.704C>A (p.Ala235Asp) rs1390478420
NM_000539.3(RHO):c.706C>A (p.Gln236Lys)
NM_000539.3(RHO):c.711G>T (p.Gln237His)
NM_000539.3(RHO):c.714G>T (p.Gln238His)
NM_000539.3(RHO):c.71T>C (p.Phe24Ser)
NM_000539.3(RHO):c.71T>G (p.Phe24Cys)
NM_000539.3(RHO):c.721G>A (p.Ala241Thr) rs2084788760
NM_000539.3(RHO):c.721G>T (p.Ala241Ser)
NM_000539.3(RHO):c.72C>A (p.Phe24Leu) rs768877243
NM_000539.3(RHO):c.72C>G (p.Phe24Leu) rs768877243
NM_000539.3(RHO):c.739G>A (p.Glu247Lys)
NM_000539.3(RHO):c.749T>C (p.Val250Ala) rs765519035
NM_000539.3(RHO):c.752C>T (p.Thr251Ile)
NM_000539.3(RHO):c.755G>A (p.Arg252His) rs765438313
NM_000539.3(RHO):c.755G>C (p.Arg252Pro) rs765438313
NM_000539.3(RHO):c.758T>C (p.Met253Thr)
NM_000539.3(RHO):c.760_762dup (p.Val254dup) rs2108750464
NM_000539.3(RHO):c.762CAT[2] (p.Ile256del) rs1553781360
NM_000539.3(RHO):c.764T>G (p.Ile255Ser) rs2084789222
NM_000539.3(RHO):c.766_777del (p.Ile256_Ile259del) rs2084789093
NM_000539.3(RHO):c.769_777dup (p.Met257_Ile259dup) rs2084789258
NM_000539.3(RHO):c.778G>A (p.Ala260Thr)
NM_000539.3(RHO):c.778_789del (p.Ala260_Ile263del) rs2084789357
NM_000539.3(RHO):c.779_780del (p.Ala260fs) rs2108750475
NM_000539.3(RHO):c.781T>C (p.Phe261Leu) rs2108750476
NM_000539.3(RHO):c.805G>A (p.Ala269Thr)
NM_000539.3(RHO):c.806C>A (p.Ala269Asp) rs2084789658
NM_000539.3(RHO):c.808A>C (p.Ser270Arg) rs2084789677
NM_000539.3(RHO):c.810C>A (p.Ser270Arg) rs768210562
NM_000539.3(RHO):c.823A>C (p.Ile275Leu) rs761022507
NM_000539.3(RHO):c.82C>A (p.Gln28Lys) rs2108749182
NM_000539.3(RHO):c.82C>G (p.Gln28Glu)
NM_000539.3(RHO):c.831C>A (p.Thr277=)
NM_000539.3(RHO):c.833A>C (p.His278Pro) rs2108750497
NM_000539.3(RHO):c.836A>C (p.Gln279Pro)
NM_000539.3(RHO):c.847T>C (p.Phe283Leu) rs2084790979
NM_000539.3(RHO):c.850G>A (p.Gly284Ser) rs765350593
NM_000539.3(RHO):c.850G>T (p.Gly284Cys) rs765350593
NM_000539.3(RHO):c.856A>G (p.Ile286Val)
NM_000539.3(RHO):c.865A>C (p.Thr289Pro)
NM_000539.3(RHO):c.86A>G (p.Tyr29Cys) rs2084756646
NM_000539.3(RHO):c.875C>T (p.Ala292Val) rs104893789
NM_000539.3(RHO):c.893C>T (p.Ala298Val)
NM_000539.3(RHO):c.895G>A (p.Ala299Thr) rs779665096
NM_000539.3(RHO):c.8G>A (p.Gly3Asp) rs972605266
NM_000539.3(RHO):c.908C>G (p.Pro303Arg) rs1578281100
NM_000539.3(RHO):c.908C>T (p.Pro303Leu) rs1578281100
NM_000539.3(RHO):c.913A>G (p.Ile305Val) rs199701338
NM_000539.3(RHO):c.929A>G (p.Asn310Ser) rs1553781406
NM_000539.3(RHO):c.92T>C (p.Leu31Pro)
NM_000539.3(RHO):c.936+12G>A
NM_000539.3(RHO):c.937-10T>A rs750473517
NM_000539.3(RHO):c.937-27_937-19del
NM_000539.3(RHO):c.937-6T>A rs543521798
NM_000539.3(RHO):c.948C>T (p.Cys316=) rs754809715
NM_000539.3(RHO):c.94G>C (p.Ala32Pro) rs2084756721
NM_000539.3(RHO):c.953_955del (p.Leu318_Thr319delinsPro) rs2084800683
NM_000539.3(RHO):c.961A>G (p.Ile321Val)
NM_000539.3(RHO):c.969C>A (p.Cys323Ter) rs142771862
NM_000539.3(RHO):c.974A>C (p.Lys325Thr) rs2108750763
NM_000539.3(RHO):c.977A>G (p.Asn326Ser) rs1264835715
NM_000539.3(RHO):c.986G>A (p.Gly329Asp)
NM_000539.3(RHO):c.991G>A (p.Asp331Asn) rs200095648
NM_000539.3(RHO):c.991G>C (p.Asp331His)
NM_000539.3(RHO):c.995_1011del (p.Glu332fs)
NM_000539.3(RHO):c.999del (p.Ser334fs)
NM_000539.3(RHO):c.99G>C (p.Glu33Asp)

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