ClinVar Miner

List of variants reported as likely pathogenic by Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_000350.3(ABCA4):c.6718A>G (p.Thr2240Ala) rs779585931 0.00010
NM_000350.3(ABCA4):c.5460+3G>A rs371777196 0.00008
NM_000350.3(ABCA4):c.2267C>T (p.Ser756Phe) rs372508062 0.00005
NM_000350.3(ABCA4):c.4773G>T (p.Gly1591=) rs751844313 0.00003
NM_206933.4(USH2A):c.4016T>G (p.Val1339Gly) rs781668118 0.00003
NM_004183.4(BEST1):c.70T>C (p.Trp24Arg) rs1334381137 0.00002
NM_000350.3(ABCA4):c.1694C>A (p.Pro565His) rs765891059 0.00001
NM_000350.3(ABCA4):c.2396C>T (p.Pro799Leu) rs542919944 0.00001
NM_000350.3(ABCA4):c.4253+4C>T rs61754044 0.00001
NM_000350.3(ABCA4):c.6686T>C (p.Leu2229Pro) rs61750659 0.00001
NM_000322.5(PRPH2):c.749G>A (p.Cys250Tyr) rs1458793437
NM_000350.3(ABCA4):c.1201A>T (p.Thr401Ser) rs559674920
NM_000350.3(ABCA4):c.1798G>T (p.Asp600Tyr) rs61752397
NM_000350.3(ABCA4):c.2522_2530del (p.Gln841_Met843del)
NM_000350.3(ABCA4):c.265G>T (p.Glu89Ter)
NM_000350.3(ABCA4):c.3383A>G (p.Asp1128Gly) rs1660480861
NM_000350.3(ABCA4):c.4313C>A (p.Pro1438Gln)
NM_000350.3(ABCA4):c.438del (p.Ile146fs)
NM_000350.3(ABCA4):c.4558G>C (p.Glu1520Gln)
NM_000350.3(ABCA4):c.4804del (p.Ile1602fs)
NM_000350.3(ABCA4):c.5335T>C (p.Tyr1779His)
NM_000350.3(ABCA4):c.5498T>G (p.Leu1833Arg)
NM_000350.3(ABCA4):c.6299G>A (p.Gly2100Glu) rs2100994077
NM_000350.3(ABCA4):c.6306C>A (p.Asp2102Glu) rs568627877
NM_000350.3(ABCA4):c.6339C>G (p.Ile2113Met) rs61750649
NM_000350.3(ABCA4):c.6394G>T (p.Glu2132Ter)
NM_000350.3(ABCA4):c.6401A>G (p.Glu2134Gly) rs2100993742
NM_000350.3(ABCA4):c.6446G>C (p.Arg2149Pro) rs61750655
NM_000350.3(ABCA4):c.689G>T (p.Cys230Phe)
NM_000459.5(TEK):c.857G>T (p.Gly286Val) rs2131150099
NM_005148.4(UNC119):c.601G>T (p.Glu201Ter) rs764936506
NM_206933.4(USH2A):c.2996G>T (p.Cys999Phe) rs2102496508
NM_206933.4(USH2A):c.9914_9915del (p.Glu3305fs)

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