ClinVar Miner

List of variants reported as pathogenic for retinal disorder by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641 0.00048
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys) rs141386891 0.00036
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_000541.5(SAG):c.577C>T (p.Arg193Ter) rs201153410 0.00020
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408 0.00018
NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys) rs752786160 0.00006
NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr) rs61751384 0.00005
NM_000350.3(ABCA4):c.4539+2028C>T rs869320785 0.00004
NM_145200.5(CABP4):c.646C>T (p.Arg216Ter) rs150115958 0.00004
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404 0.00003
NM_001298.3(CNGA3):c.450-1G>A rs754158805 0.00002
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter) rs767745816 0.00002
NM_000274.4(OAT):c.722C>T (p.Pro241Leu) rs121965051 0.00001
NM_000330.4(RS1):c.304C>T (p.Arg102Trp) rs61752067 0.00001
NM_000350.3(ABCA4):c.247_250dup (p.Ser84fs) rs1005271380 0.00001
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg) rs61750135 0.00001
NM_000350.3(ABCA4):c.4463G>T (p.Cys1488Phe) rs61750147 0.00001
NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys) rs61748538 0.00001
NM_001377295.2(GNAT2):c.937C>T (p.Arg313Ter) rs748981899 0.00001
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter) rs757641323 0.00001
NM_201548.5(CERKL):c.967_968del (p.Met323fs) rs750151209 0.00001
NM_000266.4(NDP):c.223_224dup (p.Glu76fs)
NM_000321.3(RB1):c.1072C>T (p.Arg358Ter) rs121913301
NM_000321.3(RB1):c.606del (p.Glu204fs) rs1593438023
NM_000330.4(RS1):c.103C>T (p.Gln35Ter)
NM_000350.3(ABCA4):c.2626C>T (p.Gln876Ter) rs1660843703
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp) rs61748529
NM_000350.3(ABCA4):c.4981del (p.Pro1660_Leu1661insTer) rs2101022823
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) rs61751389
NM_000390.4(CHM):c.1584_1587del (p.Val529fs) rs587776746
NM_000390.4(CHM):c.751_752del (p.Asn250_Val251insTer)
NM_000390.4(CHM):c.941-1G>A
NM_000390.4(CHM):c.999_1000insT (p.Gln334fs)
NM_000440.3(PDE6A):c.1960C>T (p.Gln654Ter) rs1581166539
NM_001004334.4(GPR179):c.984del (p.Ser329fs) rs770066665
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs) rs527236065
NM_001142800.2(EYS):c.9036del (p.Leu3013fs) rs1225304963
NM_001142800.2(EYS):c.9166_9167delinsCCTCCC (p.Ile3056fs)
NM_001256789.3(CACNA1F):c.1855del (p.Leu619fs) rs2147916504
NM_001256789.3(CACNA1F):c.2504del (p.Pro835fs) rs2147910175
NM_001844.5(COL2A1):c.1258G>T (p.Gly420Ter)
NM_001844.5(COL2A1):c.1396G>T (p.Glu466Ter)
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) rs121912884
NM_001844.5(COL2A1):c.192C>A (p.Cys64Ter) rs121912897
NM_001844.5(COL2A1):c.2920del (p.Gln974fs)
NM_001844.5(COL2A1):c.512del (p.Gly171fs)
NM_001844.5(COL2A1):c.565G>T (p.Glu189Ter)
NM_001844.5(COL2A1):c.569del (p.Lys190fs) rs2136622208
NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg) rs1131691822
NM_001844.5(COL2A1):c.925-1G>A
NM_004523.4(KIF11):c.253_260delinsTTGTTCA (p.Val85fs)
NM_004523.4(KIF11):c.2771-1G>C rs2135925601
NM_012193.4(FZD4):c.173A>G (p.Tyr58Cys)
NM_012193.4(FZD4):c.244_245delinsG (p.Phe82fs)
NM_015629.4(PRPF31):c.946-2A>G rs2073961843
NM_018418.5(SPATA7):c.1126_1127del (p.Thr375_Asp376insTer) rs1227147156
NM_019098.5(CNGB3):c.1493del (p.Leu498fs) rs773381712
NM_019098.5(CNGB3):c.2105del (p.Lys702fs) rs2131529670
NM_019098.5(CNGB3):c.595del (p.Glu199fs) rs1823778696
NM_020461.4(TUBGCP6):c.1615_1616del (p.Trp539fs)
NM_025114.4(CEP290):c.2506G>T (p.Glu836Ter)
NM_201548.5(CERKL):c.316C>A (p.Arg106Ser) rs569826109
NM_206933.4(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs) rs869312180
NM_206933.4(USH2A):c.7040_7043delinsGAAAAGGGC (p.Val2347fs)

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