ClinVar Miner

List of variants reported as pathogenic for perceptual disorders by 3billion, Medical Genetics

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 176
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) rs58331765 0.00136
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_005797.4(MPZL2):c.220C>T (p.Gln74Ter) rs146689036 0.00041
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014 0.00038
NM_001199799.2(ILDR1):c.772C>T (p.Gln258Ter) rs142746163 0.00019
NM_001256317.3(TMPRSS3):c.916G>A (p.Ala306Thr) rs181949335 0.00019
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_002905.5(RDH5):c.712G>T (p.Gly238Trp) rs62638191 0.00018
NM_004727.3(SLC24A1):c.754_755del (p.Met252fs) rs777989874 0.00016
NM_017433.5(MYO3A):c.892C>T (p.Gln298Ter) rs563832490 0.00012
NM_001039141.3(TRIOBP):c.1039C>T (p.Arg347Ter) rs118204026 0.00010
NM_001256317.3(TMPRSS3):c.325C>T (p.Arg109Trp) rs201632198 0.00010
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His) rs62653011 0.00008
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 0.00008
NM_006269.2(RP1):c.5797C>T (p.Arg1933Ter) rs118031911 0.00008
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser) rs201471607 0.00007
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys) rs752786160 0.00006
NM_000350.3(ABCA4):c.2453G>A (p.Gly818Glu) rs61750202 0.00006
NM_001379270.1(CNGA1):c.82C>T (p.Arg28Ter) rs199636364 0.00006
NM_016239.4(MYO15A):c.3524dup (p.Ser1176fs) rs766187994 0.00006
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter) rs121908073 0.00006
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln) rs61751282 0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_001039213.4(CEACAM16):c.703C>T (p.Arg235Cys) rs746164064 0.00004
NM_001379270.1(CNGA1):c.253del (p.Leu85fs) rs749012133 0.00004
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) rs28940315 0.00004
NM_000350.3(ABCA4):c.1937+1G>A rs61752401 0.00003
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His) rs61750142 0.00003
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp) rs61750155 0.00003
NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro) rs201660407 0.00003
NM_001378609.3(OTOGL):c.2860C>T (p.Arg954Ter) rs572666403 0.00003
NM_003322.6(TULP1):c.1495+1G>A rs281865168 0.00003
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409 0.00002
NM_000350.3(ABCA4):c.3898C>T (p.Arg1300Ter) rs61752427 0.00002
NM_000441.2(SLC26A4):c.1149+3A>G rs111033314 0.00002
NM_001297.5(CNGB1):c.217+5G>C rs527236060 0.00002
NM_001298.3(CNGA3):c.62C>G (p.Ser21Ter) rs1402442627 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter) rs727503326 0.00002
NM_006204.4(PDE6C):c.775C>T (p.Arg259Ter) rs757622521 0.00002
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750 0.00002
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter) rs760540562 0.00002
NM_201253.3(CRB1):c.1841G>T (p.Gly614Val) rs763111500 0.00002
NM_207352.4(CYP4V2):c.694C>T (p.Arg232Ter) rs369063468 0.00002
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys) rs61750172 0.00001
NM_000274.4(OAT):c.722C>T (p.Pro241Leu) rs121965051 0.00001
NM_000326.5(RLBP1):c.282del (p.Phe95fs) rs759505780 0.00001
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) rs61752909 0.00001
NM_000330.4(RS1):c.305G>A (p.Arg102Gln) rs61752068 0.00001
NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys) rs61751398 0.00001
NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro) rs62645946 0.00001
NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter) rs61750137 0.00001
NM_000350.3(ABCA4):c.4436G>A (p.Trp1479Ter) rs61752434 0.00001
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) rs61750146 0.00001
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter) rs61753038 0.00001
NM_000441.2(SLC26A4):c.170C>A (p.Ser57Ter) rs111033200 0.00001
NM_000441.2(SLC26A4):c.439A>G (p.Met147Val) rs760413427 0.00001
NM_000554.6(CRX):c.121C>T (p.Arg41Trp) rs104894672 0.00001
NM_001029883.3(PCARE):c.1837C>T (p.Arg613Ter) rs772325487 0.00001
NM_001029883.3(PCARE):c.958del (p.Arg320fs) rs1558490060 0.00001
NM_001039141.3(TRIOBP):c.3349C>T (p.Arg1117Ter) rs118204031 0.00001
NM_001042702.5(PJVK):c.406C>T (p.Arg136Ter) rs367688416 0.00001
NM_001142800.2(EYS):c.490C>T (p.Arg164Ter) rs794727631 0.00001
NM_001145308.5(LRTOMT):c.242G>A (p.Arg81Gln) rs137853185 0.00001
NM_001199799.2(ILDR1):c.1384C>T (p.Arg462Ter) rs775062249 0.00001
NM_001256317.3(TMPRSS3):c.46C>T (p.Arg16Ter) rs976363536 0.00001
NM_001292063.2(OTOG):c.294C>G (p.Tyr98Ter) rs574007567 0.00001
NM_001298.3(CNGA3):c.1315C>T (p.Arg439Trp) rs749842881 0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068 0.00001
NM_004183.4(BEST1):c.74G>A (p.Arg25Gln) rs281865215 0.00001
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met) rs140236996 0.00001
NM_006204.4(PDE6C):c.712C>T (p.Arg238Ter) rs762426409 0.00001
NM_016239.4(MYO15A):c.2419C>T (p.Gln807Ter) rs1233145763 0.00001
NM_019098.5(CNGB3):c.1063C>T (p.Arg355Ter) rs764742792 0.00001
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu) rs121908354 0.00001
NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser) rs748902766 0.00001
NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg) rs199476187 0.00001
NM_000180.4(GUCY2D):c.2618C>G (p.Pro873Arg) rs1567961680
NM_000180.4(GUCY2D):c.315C>A (p.Cys105Ter) rs2151799357
NM_000260.4(MYO7A):c.2557C>T (p.Arg853Cys) rs2135473615
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) rs62642583
NM_000329.3(RPE65):c.1067del (p.Asn356fs) rs281865520
NM_000330.4(RS1):c.349C>T (p.Gln117Ter) rs199469696
NM_000330.4(RS1):c.589C>T (p.Arg197Cys) rs281865354
NM_000350.3(ABCA4):c.3304G>T (p.Asp1102Tyr) rs138641544
NM_000350.3(ABCA4):c.3470T>G (p.Leu1157Ter) rs2101048479
NM_000350.3(ABCA4):c.3814-2A>T rs1660350150
NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del) rs62646872
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046
NM_000390.4(CHM):c.652_655del (p.Ser218fs) rs1930413413
NM_000390.4(CHM):c.715C>T (p.Arg239Ter) rs776256380
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg) rs768471577
NM_000441.2(SLC26A4):c.2028del (p.Arg677fs) rs2129318300
NM_000441.2(SLC26A4):c.412G>C (p.Val138Leu) rs111033199
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000539.3(RHO):c.403C>T (p.Arg135Trp) rs104893775
NM_000539.3(RHO):c.563G>A (p.Gly188Glu) rs1424131846
NM_000539.3(RHO):c.886A>G (p.Lys296Glu) rs29001653
NM_000541.5(SAG):c.874C>T (p.Arg292Ter) rs397514681
NM_000541.5(SAG):c.916G>T (p.Glu306Ter) rs397514682
NM_000843.4(GRM6):c.1336C>T (p.Arg446Ter) rs764476239
NM_001004334.4(GPR179):c.1667G>A (p.Trp556Ter)
NM_001034853.2(RPGR):c.1379del (p.Leu460fs) rs2147227522
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs) rs1555961852
NM_001034853.2(RPGR):c.3092del (p.Glu1031fs) rs1186795749
NM_001038603.3(MARVELD2):c.1331+2T>C rs772048719
NM_001038603.3(MARVELD2):c.666C>G (p.Tyr222Ter)
NM_001127453.2(GSDME):c.991-21TTC[2] rs727505273
NM_001142800.2(EYS):c.6794del (p.Pro2265fs) rs758109813
NM_001142800.2(EYS):c.984del (p.Asn328fs) rs1766679809
NM_001146079.2(CLDN14):c.254T>A (p.Val85Asp) rs74315437
NM_001201543.2(FAM161A):c.1852-2A>T rs1672402787
NM_001297.5(CNGB1):c.1958-1G>A rs888090139
NM_001378609.3(OTOGL):c.6162_6163del (p.Ala2055fs)
NM_001378609.3(OTOGL):c.6355C>T (p.Gln2119Ter) rs1343148883
NM_001384140.1(PCDH15):c.274C>T (p.Gln92Ter) rs143842048
NM_001384140.1(PCDH15):c.2843_2847dup (p.Ala950fs) rs2134901685
NM_001384474.1(LOXHD1):c.2863G>T (p.Glu955Ter) rs548893604
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys) rs1568060200
NM_002700.3(POU4F3):c.66del (p.Ser23fs) rs2126960899
NM_002900.3(RBP3):c.160C>T (p.Gln54Ter) rs782574616
NM_002900.3(RBP3):c.1682_1686dup (p.Thr563fs) rs1555211286
NM_003322.6(TULP1):c.1445G>A (p.Arg482Gln) rs146311742
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004183.4(BEST1):c.1470_1471del (p.His490fs) rs281865528
NM_004523.4(KIF11):c.157C>T (p.Arg53Ter) rs2135900558
NM_004523.4(KIF11):c.2304_2305del (p.His768fs) rs2135923352
NM_004523.4(KIF11):c.2507_2510del (p.Ser835_Ser836insTer) rs2135923477
NM_004523.4(KIF11):c.2514_2518del (p.Asn838fs)
NM_004523.4(KIF11):c.2782C>T (p.Gln928Ter) rs1589608594
NM_005422.4(TECTA):c.5383+5_5383+8del rs2135128814
NM_005422.4(TECTA):c.6103G>T (p.Glu2035Ter) rs267602733
NM_005797.4(MPZL2):c.463del (p.Ala155fs) rs759432278
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006017.3(PROM1):c.139del (p.His47fs) rs747512450
NM_006017.3(PROM1):c.2050C>T (p.Arg684Ter) rs530749007
NM_006204.4(PDE6C):c.1336G>T (p.Glu446Ter)
NM_006204.4(PDE6C):c.2283+1G>T rs760343056
NM_006204.4(PDE6C):c.2367+1_2367+5del rs796051871
NM_006269.2(RP1):c.1012C>T (p.Arg338Ter) rs1805984836
NM_006915.3(RP2):c.352C>T (p.Arg118Cys) rs1556318633
NM_014714.4(IFT140):c.1246C>T (p.Gln416Ter)
NM_016239.4(MYO15A):c.1185dup (p.Glu396fs) rs772536599
NM_016239.4(MYO15A):c.1657del (p.Arg553fs)
NM_016239.4(MYO15A):c.900del (p.Pro301fs) rs2142242418
NM_016239.4(MYO15A):c.9518-2A>G
NM_018191.4(RCBTB1):c.707del (p.Asn236fs) rs777630688
NM_019098.5(CNGB3):c.446_447insT (p.Lys149fs) rs748993388
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020366.4(RPGRIP1):c.1151+1G>A rs751096098
NM_020366.4(RPGRIP1):c.3618-1_3621del rs1594280740
NM_022124.6(CDH23):c.3076del (p.Leu1026fs)
NM_022124.6(CDH23):c.3481C>T (p.Arg1161Ter) rs397517323
NM_022124.6(CDH23):c.6253+1G>A rs1554874373
NM_031475.3(ESPN):c.1649_1665del (p.Arg550fs)
NM_033109.5(PNPT1):c.574C>T (p.Arg192Ter)
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351
NM_138691.3(TMC1):c.1220dup (p.Asn407fs) rs1564555185
NM_144672.4(OTOA):c.1765del (p.Gln589fs) rs775776282
NM_145309.6(LRRC51):c.340_346del (p.Ile114fs) rs759544282
NM_148960.3(CLDN19):c.427del (p.Leu143fs) rs2124044159
NM_148960.3(CLDN19):c.474-1G>C rs973088841
NM_153700.2(STRC):c.583C>T (p.Gln195Ter) rs774990944
NM_177398.4(LMX1A):c.595A>G (p.Arg199Gly)
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter) rs80356590
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter) rs150412614

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