ClinVar Miner

List of variants in gene RHO studied for blindness (disorder)

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_000539.3(RHO):c.-26A>G rs7984 0.38071
NM_000539.3(RHO):c.*912A>G rs2855558 0.37600
NM_000539.3(RHO):c.*232A>G rs2410 0.12892
NM_000539.3(RHO):c.*925T>C rs60645924 0.11065
NM_000539.3(RHO):c.-51G>A rs2269736 0.08270
NM_000539.3(RHO):c.696+4C>T rs56340615 0.07633
NM_000539.3(RHO):c.*313C>T rs55941599 0.02366
NM_000539.3(RHO):c.*1601C>T rs187923166 0.01177
NM_000539.3(RHO):c.*488T>C rs78163008 0.01127
NM_000539.3(RHO):c.*33C>T rs113310993 0.01076
NM_000539.3(RHO):c.*1278G>T rs113312341 0.00359
NM_000539.3(RHO):c.360C>T (p.Gly120=) rs79765751 0.00312
NM_000539.3(RHO):c.152G>C (p.Gly51Ala) rs149079952 0.00296
NM_000539.3(RHO):c.480C>A (p.Thr160=) rs151063543 0.00180
NM_000539.3(RHO):c.*205C>T rs202215179 0.00170
NM_000539.3(RHO):c.*467A>G rs148165044 0.00161
NM_000539.3(RHO):c.381C>G (p.Ser127=) rs146311684 0.00144
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.969C>T (p.Cys323=) rs142771862 0.00075
NM_000539.3(RHO):c.*1200T>C rs538744995 0.00051
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.891C>T (p.Ser297=) rs142285818 0.00041
NM_000539.3(RHO):c.519C>T (p.Ala173=) rs149722668 0.00029
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.624C>T (p.Phe208=) rs113751838 0.00014
NM_000539.3(RHO):c.*1255T>C rs774496991 0.00013
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.399C>A (p.Ile133=) rs372812523 0.00008
NM_000539.3(RHO):c.*551G>A rs933661466 0.00006
NM_000539.3(RHO):c.*285G>A rs1487459358 0.00005
NM_000539.3(RHO):c.697-11G>A rs367631575 0.00005
NM_000539.3(RHO):c.1025C>T (p.Thr342Met) rs183318466 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.440G>A (p.Arg147His) rs746468201 0.00003
NM_000539.3(RHO):c.205C>T (p.Arg69Cys) rs761101263 0.00002
NM_000539.3(RHO):c.491C>T (p.Ala164Val) rs104893793 0.00002
NM_000539.3(RHO):c.*1144C>T rs886057977 0.00001
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566 0.00001
NM_000539.3(RHO):c.48G>A (p.Ala16=) rs766112074 0.00001
NM_000539.3(RHO):c.551A>G (p.Gln184Arg) rs1402468701 0.00001
NM_000539.3(RHO):c.62G>A (p.Arg21His) rs552455660 0.00001
NM_000539.3(RHO):c.732G>A (p.Gln244=) rs148222991 0.00001
NM_000539.3(RHO):c.754C>T (p.Arg252Cys) rs752805805 0.00001
NM_000539.3(RHO):c.87C>T (p.Tyr29=) rs149084537 0.00001
NM_000539.3(RHO):c.962T>A (p.Ile321Asn) rs1316267671 0.00001
NM_000539.3(RHO):c.*1099G>A rs3733148
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.*43C>A rs2071093
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.194_205del (p.His65_Leu68del)
NM_000539.3(RHO):c.269G>A (p.Gly90Asp) rs104893790
NM_000539.3(RHO):c.281C>T (p.Thr94Ile) rs104893796
NM_000539.3(RHO):c.328T>C (p.Cys110Arg) rs1578278438
NM_000539.3(RHO):c.362G>T (p.Gly121Val) rs2084774644
NM_000539.3(RHO):c.586C>A (p.Pro196Thr) rs765931092
NM_000539.3(RHO):c.614T>G (p.Ile205Ser) rs886057967
NM_000539.3(RHO):c.647T>A (p.Met216Lys) rs984572250
NM_000539.3(RHO):c.68C>A (p.Pro23His) rs104893768
NM_000539.3(RHO):c.696+12G>A rs55915536
NM_000539.3(RHO):c.704C>A (p.Ala235Asp) rs1390478420
NM_000539.3(RHO):c.806C>A (p.Ala269Asp) rs2084789658
NM_000539.3(RHO):c.847T>C (p.Phe283Leu) rs2084790979
NM_000539.3(RHO):c.875C>A (p.Ala292Glu) rs104893789
NM_000539.3(RHO):c.948C>T (p.Cys316=) rs754809715

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