ClinVar Miner

List of variants reported as likely pathogenic by Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.4253+43G>A rs61754045 0.00486
NM_002905.5(RDH5):c.839G>A (p.Arg280His) rs62638193 0.00011
NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val) rs61748521 0.00003
NM_000274.4(OAT):c.1058G>A (p.Gly353Asp) rs121965053 0.00001
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) rs61752909 0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091 0.00001
NM_206933.4(USH2A):c.14134-3169A>G rs998302546 0.00001
NM_206933.4(USH2A):c.1478A>G (p.Tyr493Cys) rs756570931 0.00001
NM_206933.4(USH2A):c.907C>A (p.Arg303Ser) rs748465849 0.00001
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950 0.00001
NM_000260.4(MYO7A):c.1929dup (p.Pro644fs)
NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg) rs751769391
NM_000283.4(PDE6B):c.1568T>G (p.Met523Arg)
NM_000322.5(PRPH2):c.695C>T (p.Ala232Val) rs1800113364
NM_000322.5(PRPH2):c.914G>A (p.Gly305Asp) rs61748432
NM_000329.3(RPE65):c.1101A>G (p.Arg367=) rs1553152989
NM_000330.4(RS1):c.419G>A (p.Gly140Glu) rs61752157
NM_000350.3(ABCA4):c.2T>C (p.Met1Thr)
NM_000350.3(ABCA4):c.6104T>C (p.Leu2035Pro) rs61750642
NM_000390.4(CHM):c.1168_1244+1del
NM_000440.3(PDE6A):c.2327del (p.Phe776fs)
NM_001017979.3(RAB28):c.299G>A (p.Ser100Asn) rs1715552187
NM_001017979.3(RAB28):c.430C>T (p.His144Tyr)
NM_001034853.2(RPGR):c.2064del (p.Arg688fs)
NM_001034853.2(RPGR):c.2357_2375del (p.Lys786fs)
NM_001034853.2(RPGR):c.2491G>T (p.Glu831Ter) rs865977487
NM_001034853.2(RPGR):c.2567_2568del (p.Gly856fs)
NM_001077620.3(PRCD):c.102_111dup (p.Ser38Ter)
NM_001142800.2(EYS):c.4100C>A (p.Ser1367Ter)
NM_001142800.2(EYS):c.7228G>A (p.Ala2410Thr)
NM_001142800.2:c.6425-7585_7056-7439dup
NM_001201543.2(FAM161A):c.1420del (p.Ala474fs)
NM_001256789.3(CACNA1F):c.2953del (p.Ala985fs)
NM_001297.5(CNGB1):c.2567_2568del (p.Leu855_Phe856insTer)
NM_001297.5:c.1536-3071_2634+31dup
NM_001298.3(CNGA3):c.1073G>C (p.Trp358Ser)
NM_001298.3(CNGA3):c.910G>C (p.Gly304Arg)
NM_001349884.2(DRAM2):c.517+5C>A
NM_001384910.1(GUCA1A):c.442G>C (p.Asp148His)
NM_001563.4(IMPG1):c.1876C>T (p.Leu626Phe) rs1051579797
NM_003322.6(TULP1):c.415dup (p.Ile139fs)
NM_006017.3(PROM1):c.2267G>A (p.Trp756Ter)
NM_006343.3(MERTK):c.2209G>T (p.Val737Phe)
NM_006915.3(RP2):c.225del (p.Phe75fs)
NM_006915.3(RP2):c.276_277delinsA (p.Phe92fs)
NM_014249.4(NR2E3):c.316AAG[1] (p.Lys107del)
NM_015072.5(TTLL5):c.2412_2420delinsAATTTTTT (p.Thr805fs)
NM_018418.5(SPATA7):c.283C>T (p.Gln95Ter)
NM_020366.4(RPGRIP1):c.2367+23del rs781728563
NM_025114.4(CEP290):c.223A>G (p.Lys75Glu) rs779010679
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro) rs778030031
NM_206933.4(USH2A):c.2302T>C (p.Cys768Arg)
NM_206933.4(USH2A):c.9315del (p.Val3106fs)

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