ClinVar Miner

List of variants reported as likely pathogenic for perceptual disorders by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_178857.6(RP1L1):c.4004_4005insT (p.Val1336fs) rs781490139 0.00036
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120 0.00019
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_002905.5(RDH5):c.208C>T (p.Arg70Trp) rs1058635 0.00009
NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys) rs756840095 0.00006
NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter) rs776962899 0.00006
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg) rs569681869 0.00004
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350 0.00004
NM_000539.3(RHO):c.759G>T (p.Met253Ile) rs756658659 0.00004
NM_000153.4(GALC):c.850G>A (p.Gly284Ser) rs377274761 0.00003
NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp) rs61753029 0.00003
NM_001379500.1(COL18A1):c.929-2A>G rs765919785 0.00003
NM_006017.3(PROM1):c.652C>T (p.Gln218Ter) rs374017889 0.00003
NM_207352.4(CYP4V2):c.1523G>A (p.Arg508His) rs119103284 0.00003
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981 0.00002
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp) rs104893613 0.00002
NM_004183.4(BEST1):c.302C>T (p.Pro101Leu) rs374517178 0.00002
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys) rs61750172 0.00001
NM_000330.4(RS1):c.214G>A (p.Glu72Lys) rs104894928 0.00001
NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu) rs62654397 0.00001
NM_000350.3(ABCA4):c.428C>T (p.Pro143Leu) rs62646860 0.00001
NM_000441.2(SLC26A4):c.299T>C (p.Leu100Pro) rs1057518810 0.00001
NM_001039348.3(EFEMP1):c.1189T>C (p.Tyr397His) rs1553348960 0.00001
NM_004183.4(BEST1):c.1444del (p.Glu482fs) rs759410076 0.00001
NM_005422.4(TECTA):c.6061C>T (p.Arg2021Cys) rs1455568421 0.00001
NM_016239.4(MYO15A):c.2677C>T (p.Arg893Ter) rs763075073 0.00001
NM_144596.4(TTC8):c.915del (p.Met305fs) rs1431207606 0.00001
NC_012920.1(MT-ND6):m.14598T>C rs1057518882
NM_000153.4(GALC):c.196G>A (p.Ala66Thr) rs1057518843
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del) rs552184470
NM_000260.4(MYO7A):c.6409G>A (p.Gly2137Arg) rs1223784415
NM_000274.4(OAT):c.875A>G (p.Lys292Arg) rs1057518927
NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn) rs61755787
NM_000322.5(PRPH2):c.793dup (p.Met265fs) rs1800110234
NM_000330.4(RS1):c.649del (p.Leu217fs) rs1927598075
NM_000350.3(ABCA4):c.3272G>A (p.Gly1091Glu) rs61752417
NM_000350.3(ABCA4):c.5942C>G (p.Thr1981Arg) rs752147871
NM_000390.4(CHM):c.539del (p.Asn180fs) rs1930424354
NM_000390.4(CHM):c.75_77del (p.Ala26del) rs1555968874
NM_000441.2(SLC26A4):c.1693T>G (p.Cys565Gly) rs767255075
NM_000539.3(RHO):c.260T>A (p.Val87Asp) rs104893771
NM_000883.4(IMPDH1):c.928A>C (p.Thr310Pro) rs1057518949
NM_001034853.2(RPGR):c.3457T>A (p.Ter1153Lys) rs2067111489
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001201543.2(FAM161A):c.294del (p.Lys98_Val99insTer) rs762087385
NM_001256789.3(CACNA1F):c.694A>T (p.Lys232Ter) rs1057518829
NM_001378477.3(NYX):c.604_612dup (p.Arg202_Arg204dup) rs2064376509
NM_001379500.1(COL18A1):c.3448C>T (p.Arg1150Ter) rs1057518802
NM_001793.6(CDH3):c.2087del (p.Asp696fs) rs1961688932
NM_001844.5(COL2A1):c.1916G>A (p.Gly639Asp) rs1057518908
NM_001999.4(FBN2):c.3592T>C (p.Cys1198Arg) rs1750891403
NM_001999.4(FBN2):c.4055G>C (p.Cys1352Ser) rs1750790929
NM_002905.5(RDH5):c.248dup (p.Thr84fs) rs1876913255
NM_003322.6(TULP1):c.1258C>T (p.Arg420Cys) rs551519696
NM_003322.6(TULP1):c.139G>T (p.Glu47Ter) rs1761224205
NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr) rs1057518895
NM_004523.4(KIF11):c.2312_2313del (p.Lys771fs) rs1844907904
NM_006269.2(RP1):c.4908C>A (p.Tyr1636Ter) rs200942439
NM_006915.3(RP2):c.409_411del (p.Ile137del) rs1924904597
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_015100.4(POGZ):c.402_409dup (p.His137fs) rs1057518799
NM_015629.4(PRPF31):c.757G>A (p.Gly253Arg) rs2073873973
NM_020366.4(RPGRIP1):c.2567_2568dup (p.Val857fs) rs1555302200
NM_080680.3(COL11A2):c.4430G>T (p.Gly1477Val) rs745434198
NM_144631.6(ZNF513):c.279_283del (p.Ala94fs) rs1683490120
NM_152419.3(HGSNAT):c.272del (p.Pro91fs) rs1803166641
NM_152443.3(RDH12):c.377C>A (p.Ala126Glu) rs202126574
NM_194248.3(OTOF):c.2677-2A>G rs1057518840
NM_201253.3(CRB1):c.2708_2709del (p.His903fs) rs1664767982
NM_201253.3(CRB1):c.3878G>A (p.Trp1293Ter) rs1665282478
NM_201548.5(CERKL):c.677+3A>G rs1553515435

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