ClinVar Miner

List of variants reported as pathogenic for autosomal recessive disease by Molecular Genetics Laboratory, Institute for Ophthalmic Research

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val) rs758217005 0.00012
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272 0.00003
NM_000329.3(RPE65):c.1451G>T (p.Gly484Val) rs62653015 0.00001
NM_001023570.4(IQCB1):c.812del (p.Ser271fs) rs748559081 0.00001
NM_001278293.3(ARL6):c.291T>A (p.Ser97Arg) rs2037381055 0.00001
NM_022124.6(CDH23):c.4105-2A>T rs1416386069 0.00001
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter) rs775710800 0.00001
NM_152618.3(BBS12):c.1504G>T (p.Ala502Ser) rs142593414 0.00001
NM_000260.4(MYO7A):c.137_138dup (p.Trp47fs) rs1057519225
NM_000260.4(MYO7A):c.1853T>G (p.Leu618Arg) rs1954240719
NM_000260.4(MYO7A):c.1997G>C (p.Arg666Pro) rs782396605
NM_000260.4(MYO7A):c.4852+1G>A rs1956938352
NM_000283.4(PDE6B):c.886G>T (p.Glu296Ter) rs1064797304
NM_001278293.3(ARL6):c.528G>T (p.Trp176Cys) rs2037751886
NM_001312673.2(PCYT1A):c.471C>G (p.Phe157Leu) rs1577358031
NM_001378454.1(ALMS1):c.10146dup (p.Ser3383fs) rs1553416872
NM_001378454.1(ALMS1):c.7132C>T (p.Leu2378Phe) rs768751472
NM_001378454.1(ALMS1):c.7786C>T (p.Gln2596Ter) rs1672934629
NM_014336.5(AIPL1):c.238C>T (p.Arg80Trp) rs748210823
NM_014336.5(AIPL1):c.34dup (p.Val12fs) rs752193525
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020366.4(RPGRIP1):c.2368-2A>G rs1064797182
NM_022124.6(CDH23):c.6449del (p.Gly2150fs) rs1564796673
NM_022124.6(CDH23):c.8053G>T (p.Ala2685Ser) rs1362644811
NM_022124.6(CDH23):c.9077+1G>A rs1841885880
NM_022124.6(CDH23):c.9284dup (p.Arg3096fs) rs1564808024
NM_022787.4(NMNAT1):c.629T>C (p.Ile210Thr) rs1641970512
NM_024685.4(BBS10):c.1603_1606del (p.Asp535fs) rs1951757988
NM_024685.4(BBS10):c.578T>C (p.Leu193Ser) rs1951767864
NM_025114.4(CEP290):c.102+1G>T rs2040637111
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter) rs886042360
NM_032119.4(ADGRV1):c.14315C>G (p.Ser4772Ter) rs1561740143
NM_032119.4(ADGRV1):c.2241-2A>G rs929034631
NM_032119.4(ADGRV1):c.3195dup (p.Gly1066fs) rs1767988429
NM_033028.5(BBS4):c.129T>G (p.Tyr43Ter) rs2065331681
NM_153676.4(USH1C):c.263del (p.Val88fs) rs1850961650
NM_153676.4(USH1C):c.580-2A>T rs1850678559
NM_153676.4(USH1C):c.841_848del (p.Ser281fs) rs1064797153
NM_173477.5(USH1G):c.208_209insTC (p.His70fs) rs1555627787
NM_201253.3(CRB1):c.2133T>A (p.Tyr711Ter) rs772794324
NM_201253.3(CRB1):c.2809G>C (p.Ala937Pro) rs114630940
NM_201253.3(CRB1):c.3086T>A (p.Val1029Glu) rs1064797128
NM_206933.4(USH2A):c.12333dup (p.Gly4112fs) rs1657996197
NM_206933.4(USH2A):c.12855G>A (p.Trp4285Ter) rs1657965422
NM_206933.4(USH2A):c.12892T>A (p.Tyr4298Asn) rs1064797130
NM_206933.4(USH2A):c.14011_14025del (p.Glu4671_Arg4675del) rs1657799383
NM_206933.4(USH2A):c.14129A>C (p.Tyr4710Ser) rs1064797129
NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter) rs754834155
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs) rs1656419435
NM_206933.4(USH2A):c.1521_1522delinsAT (p.Tyr507_Ala508delinsTer) rs1571701069
NM_206933.4(USH2A):c.1986T>A (p.Cys662Ter) rs2036152207
NM_206933.4(USH2A):c.3221G>A (p.Trp1074Ter) rs1064797138
NM_206933.4(USH2A):c.3381del (p.Thr1128fs) rs2034948574
NM_206933.4(USH2A):c.4184_4185del (p.Val1395fs) rs2034850724
NM_206933.4(USH2A):c.4210G>T (p.Glu1404Ter) rs2034849647
NM_206933.4(USH2A):c.4365T>G (p.Ser1455Arg) rs1553312493
NM_206933.4(USH2A):c.575A>C (p.Asn192Thr) rs2039616380
NM_206933.4(USH2A):c.5777-2A>C rs1064797136
NM_206933.4(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.4(USH2A):c.6127_6128dup (p.Ser2043fs) rs2030619513
NM_206933.4(USH2A):c.668T>C (p.Ile223Thr) rs2038569132
NM_206933.4(USH2A):c.7027del (p.Arg2343fs) rs1667316878
NM_206933.4(USH2A):c.9682C>T (p.Gln3228Ter) rs1662772955

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