ClinVar Miner

List of variants in gene LCA5 studied for Inborn genetic diseases

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001122769.3(LCA5):c.38A>G (p.Glu13Gly) rs186642323 0.00025
NM_001122769.3(LCA5):c.1097T>C (p.Leu366Ser) rs200988021 0.00019
NM_001122769.3(LCA5):c.521G>A (p.Arg174His) rs144016257 0.00014
NM_001122769.3(LCA5):c.1489T>C (p.Ser497Pro) rs773531972 0.00006
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter) rs121918165 0.00006
NM_001122769.3(LCA5):c.280C>T (p.Arg94Trp) rs771098708 0.00005
NM_001122769.3(LCA5):c.1138G>A (p.Gly380Arg) rs201814494 0.00004
NM_001122769.3(LCA5):c.488G>A (p.Arg163His) rs189168054 0.00004
NM_001122769.3(LCA5):c.595A>G (p.Thr199Ala) rs775866690 0.00004
NM_001122769.3(LCA5):c.1481A>T (p.Asp494Val) rs767411685 0.00003
NM_001122769.3(LCA5):c.511C>T (p.Leu171Phe) rs745520623 0.00003
NM_001122769.3(LCA5):c.650A>C (p.Glu217Ala) rs371429608 0.00002
NM_001122769.3(LCA5):c.98C>T (p.Ser33Phe) rs745815628 0.00002
NM_001122769.3(LCA5):c.1533C>A (p.Phe511Leu) rs570251479 0.00001
NM_001122769.3(LCA5):c.1648G>C (p.Glu550Gln) rs756922411 0.00001
NM_001122769.3(LCA5):c.19A>G (p.Ser7Gly) rs746949921 0.00001
NM_001122769.3(LCA5):c.2029G>A (p.Asp677Asn) rs367583144 0.00001
NM_001122769.3(LCA5):c.101G>A (p.Gly34Asp)
NM_001122769.3(LCA5):c.1031A>G (p.Tyr344Cys)
NM_001122769.3(LCA5):c.1156A>C (p.Met386Leu)
NM_001122769.3(LCA5):c.115G>T (p.Val39Phe)
NM_001122769.3(LCA5):c.1273G>T (p.Ala425Ser)
NM_001122769.3(LCA5):c.137T>A (p.Val46Asp) rs765571375
NM_001122769.3(LCA5):c.142A>G (p.Arg48Gly)
NM_001122769.3(LCA5):c.1577A>G (p.Asp526Gly)
NM_001122769.3(LCA5):c.1621A>C (p.Asn541His)
NM_001122769.3(LCA5):c.1873A>C (p.Asn625His)
NM_001122769.3(LCA5):c.2012G>A (p.Arg671Gln)
NM_001122769.3(LCA5):c.2029G>T (p.Asp677Tyr)
NM_001122769.3(LCA5):c.262C>T (p.Leu88Phe)
NM_001122769.3(LCA5):c.305A>G (p.Lys102Arg)
NM_001122769.3(LCA5):c.469A>G (p.Ile157Val) rs901281230
NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter) rs866395428
NM_001122769.3(LCA5):c.919C>A (p.Pro307Thr) rs139892282

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