ClinVar Miner

List of variants studied for perceptual disorders by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 113
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HGVS dbSNP gnomAD frequency
NM_000326.5(RLBP1):c.753C>A (p.Tyr251Ter) rs151141842 0.00014
NM_016239.4(MYO15A):c.6728C>T (p.Thr2243Met) rs753611930 0.00010
NM_001319074.4(RAX2):c.275C>T (p.Ser92Leu) rs754730849 0.00009
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr) rs768445391 0.00004
NM_001319074.4(RAX2):c.92G>A (p.Arg31His) rs373009969 0.00004
NM_000390.4(CHM):c.189+5A>G rs757833413 0.00003
NM_001297.5(CNGB1):c.2893-7G>A rs749199721 0.00003
NM_001142800.2(EYS):c.6623G>A (p.Gly2208Glu) rs1197105310 0.00001
NM_001252024.2(TRPM1):c.3410G>T (p.Ser1137Ile) rs375136665 0.00001
NM_004183.4(BEST1):c.275G>T (p.Arg92Leu) rs281865225 0.00001
NM_005219.5(DIAPH1):c.2082G>T (p.Leu694Phe) rs778995744 0.00001
NM_016239.4(MYO15A):c.8005dup (p.Thr2669fs) rs1221876133 0.00001
NM_201548.5(CERKL):c.1550_1554dup (p.Ile519fs) rs773497189 0.00001
NM_201548.5(CERKL):c.239-2A>G rs776886395 0.00001
GRCh37/hg19 19q13.42(chr19:54618744-54622073)x1
NM_000180.4(GUCY2D):c.1040_1041del (p.Phe347fs) rs763890649
NM_000180.4(GUCY2D):c.2516C>G (p.Thr839Arg) rs61750174
NM_000274.4(OAT):c.899C>T (p.Pro300Leu) rs759979499
NM_000274.4(OAT):c.980C>G (p.Pro327Arg) rs1589698958
NM_000283.4(PDE6B):c.1832+1G>T rs370758397
NM_000322.5(PRPH2):c.316_317del (p.Val106fs) rs1562434117
NM_000322.5(PRPH2):c.636C>G (p.Ser212Arg) rs1554269071
NM_000322.5(PRPH2):c.668T>C (p.Ile223Thr) rs1800114220
NM_000322.5(PRPH2):c.829-1G>A rs1582759782
NM_000350.3(ABCA4):c.1339C>T (p.Gln447Ter) rs886039882
NM_000350.3(ABCA4):c.1497G>A (p.Trp499Ter) rs1553193813
NM_000350.3(ABCA4):c.1676G>A (p.Trp559Ter) rs1570393848
NM_000350.3(ABCA4):c.1958G>T (p.Arg653Leu) rs141823837
NM_000350.3(ABCA4):c.3062del (p.Ala1021fs) rs1570373408
NM_000350.3(ABCA4):c.3093del (p.Gly1032fs) rs886044735
NM_000350.3(ABCA4):c.4567C>T (p.Gln1523Ter) rs1553188916
NM_000350.3(ABCA4):c.4696C>T (p.Leu1566Phe) rs377398404
NM_000350.3(ABCA4):c.488_491del (p.Leu163fs) rs747950242
NM_000350.3(ABCA4):c.5333T>A (p.Met1778Lys) rs748706582
NM_000350.3(ABCA4):c.5899-1G>T rs1553187160
NM_000350.3(ABCA4):c.6113G>C (p.Arg2038Pro) rs767729255
NM_000350.3(ABCA4):c.6232A>C (p.Lys2078Gln) rs951379922
NM_000350.3(ABCA4):c.716G>A (p.Trp239Ter) rs755733328
NM_000390.4(CHM):c.22G>T (p.Glu8Ter) rs1603288832
NM_000390.4(CHM):c.660del (p.Ile221fs) rs1603264410
NM_000539.3(RHO):c.328T>G (p.Cys110Gly) rs1578278438
NM_000554.6(CRX):c.565del (p.Ala189fs) rs1568626289
NM_000554.6(CRX):c.898T>C (p.Ter300Gln) rs1599992745
NM_000883.4(IMPDH1):c.1642G>A (p.Gly548Ser) rs1312955440
NM_001004334.4(GPR179):c.779_780dup (p.Pro262fs) rs1567728372
NM_001029883.3(PCARE):c.1228C>T (p.Gln410Ter) rs1572829010
NM_001034853.2(RPGR):c.983del (p.Gly328fs) rs1555965107
NM_001080476.3(GRXCR1):c.385-2A>G rs771844359
NM_001142800.2(EYS):c.5243T>A (p.Leu1748Ter) rs1582928662
NM_001142800.2(EYS):c.6461C>G (p.Ser2154Cys) rs1771988273
NM_001142800.2(EYS):c.875_890delinsTTTCT (p.Glu292fs) rs1582249186
NM_001142800.2(EYS):c.8793_8796del (p.Gln2931fs) rs1554163919
NM_001142800.2(EYS):c.8830del (p.Val2944fs) rs776526721
NM_001142800.2(EYS):c.8993T>C (p.Met2998Thr) rs768837125
NM_001142800.2(EYS):c.9181A>T (p.Asn3061Tyr) rs1561993477
NM_001146079.2(CLDN14):c.191G>A (p.Cys64Tyr) rs1568839335
NM_001252024.2(TRPM1):c.1460T>A (p.Met487Lys) rs1596017653
NM_001252024.2(TRPM1):c.282T>G (p.Tyr94Ter) rs372529012
NM_001256789.3(CACNA1F):c.3037-2A>G rs1057516199
NM_001298.3(CNGA3):c.1085C>T (p.Thr362Ile) rs1574390811
NM_001298.3(CNGA3):c.589T>C (p.Ser197Pro) rs1330263985
NM_001349884.2(DRAM2):c.568G>T (p.Glu190Ter) rs1057516195
NM_001378609.3(OTOGL):c.4536_4537del (p.Cys1512fs) rs763898293
NM_001384910.1(GUCA1A):c.313_318del (p.Gly105_Cys106del) rs1582323230
NM_003322.6(TULP1):c.794del (p.Lys265fs) rs1581742615
NM_004183.4(BEST1):c.1370C>G (p.Pro457Arg) rs1554964287
NM_004183.4(BEST1):c.424_426dup (p.Ser142dup) rs1591284563
NM_004183.4(BEST1):c.658C>T (p.Gln220Ter) rs775283269
NM_004183.4(BEST1):c.684C>G (p.Asp228Glu) rs1431752515
NM_004183.4(BEST1):c.695T>G (p.Ile232Ser) rs1565392261
NM_004183.4(BEST1):c.956T>C (p.Leu319Pro) rs1554963305
NM_004523.4(KIF11):c.2341C>T (p.Gln781Ter) rs1057516208
NM_004523.4(KIF11):c.349G>T (p.Gly117Cys) rs1589590723
NM_005422.4(TECTA):c.458C>T (p.Thr153Met) rs1555121799
NM_005802.5(TOPORS):c.2319_2320delinsCG (p.Ser774Gly) rs1563983313
NM_006204.4(PDE6C):c.1589T>C (p.Phe530Ser) rs1564801134
NM_006204.4(PDE6C):c.2036+2T>G rs1589704707
NM_006204.4(PDE6C):c.435G>A (p.Trp145Ter) rs1589690942
NM_006269.2(RP1):c.5105_5109del (p.Asp1702fs) rs1278053918
NM_006269.2(RP1):c.6236C>G (p.Ser2079Ter) rs1585569717
NM_006343.3(MERTK):c.2486+1G>A rs1309140887
NM_006343.3(MERTK):c.692G>C (p.Trp231Ser) rs1573592033
NM_006915.3(RP2):c.758del (p.Leu253fs) rs1602347992
NM_014249.4(NR2E3):c.926G>T (p.Arg309Leu) rs761628767
NM_014714.4(IFT140):c.2650C>G (p.Arg884Gly) rs554196965
NM_014714.4(IFT140):c.3070G>T (p.Glu1024Ter) rs777889289
NM_015072.5(TTLL5):c.2782dup (p.Met928fs) rs1555345387
NM_015072.5(TTLL5):c.987A>T (p.Glu329Asp) rs1555384338
NM_015629.4(PRPF31):c.1007C>G (p.Pro336Arg) rs1555794210
NM_015629.4(PRPF31):c.1110_1117del (p.Ile371fs) rs1600356790
NM_015629.4(PRPF31):c.140C>A (p.Ser47Ter) rs2073703461
NM_015629.4(PRPF31):c.904del (p.Ala302Glnfs) rs1555793828
NM_016239.4(MYO15A):c.6638G>A (p.Trp2213Ter) rs1567649945
NM_016247.4(IMPG2):c.1826del (p.Val609fs) rs1553681433
NM_016247.4(IMPG2):c.2816T>A (p.Leu939His) rs1559642470
NM_016247.4(IMPG2):c.85+2T>A rs1553687118
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[1] (p.720QKENEDK[1]) rs746549330
NM_022787.4(NMNAT1):c.205A>T (p.Met69Leu) rs372066126
NM_025114.4(CEP290):c.297+1G>A rs878853360
NM_145200.5(CABP4):c.61_62delinsA (p.Pro21fs) rs1590998813
NM_152443.3(RDH12):c.149G>A (p.Gly50Asp) rs1594865064
NM_153676.4(USH1C):c.2380+1G>C rs1060499916
NM_153676.4(USH1C):c.445G>A (p.Glu149Lys) rs1565058763
NM_172240.3(POC1B):c.1332_1333dup (p.Thr445fs) rs1880707874
NM_172240.3(POC1B):c.52A>T (p.Lys18Ter) rs758725010
NM_201253.3(CRB1):c.1043G>A (p.Cys348Tyr) rs886039871
NM_201548.5(CERKL):c.677+547G>A rs1044562973
NM_206933.4(USH2A):c.10388-1G>C rs1553261478
NM_206933.4(USH2A):c.13019G>T (p.Gly4340Val) rs1419157426
NM_206933.4(USH2A):c.2195G>T (p.Gly732Val) rs1360258103
NM_206933.4(USH2A):c.409dup (p.Ser137fs) rs1571805164
NM_206933.4(USH2A):c.667dup (p.Ile223fs) rs1553253747
NM_206933.4(USH2A):c.8558+5G>A rs746331566

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