ClinVar Miner

List of variants studied for Leber congenital amaurosis 4 by Laboratory of Genetics in Ophthalmology, Institut Imagine

Included ClinVar conditions (3):
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014 0.00038
NM_014336.5(AIPL1):c.277-2A>G rs140808549 0.00009
NM_014336.5(AIPL1):c.421C>T (p.Gln141Ter) rs200125117 0.00002
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg) rs201883601 0.00001
NM_014336.5(AIPL1):c.97_104dup (p.Phe35delinsLeuTer) rs776129172 0.00001
NM_014336.3(AIPL1):c.1-1795del rs1913249761
NM_014336.5(AIPL1):c.104_105insG (p.Phe35fs) rs1912920081
NM_014336.5(AIPL1):c.105_106insGTGATCTT (p.His36fs) rs1912919808
NM_014336.5(AIPL1):c.211G>T (p.Val71Phe) rs775364986
NM_014336.5(AIPL1):c.466-1G>C rs1567637467
NM_014336.5(AIPL1):c.582C>G (p.Tyr194Ter) rs368845643
NM_014336.5(AIPL1):c.589G>C (p.Ala197Pro) rs62637010
NM_014336.5(AIPL1):c.597dup (p.Lys200fs) rs1283508592
NM_014336.5(AIPL1):c.665G>A (p.Trp222Ter) rs1912011058
NM_014336.5(AIPL1):c.715T>C (p.Cys239Arg) rs62637012
NM_014336.5(AIPL1):c.773G>C (p.Arg258Pro) rs751881283
NM_014336.5(AIPL1):c.785-10_786del rs1911894399
NM_014336.5(AIPL1):c.96+4A>T rs772417830

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