ClinVar Miner

List of variants reported as likely pathogenic for Leber congenital amaurosis 9 by Laboratory of Genetics in Ophthalmology, Institut Imagine

Included ClinVar conditions (1):
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_022787.4(NMNAT1):c.293T>G (p.Val98Gly) rs771336246 0.00011
NM_022787.4(NMNAT1):c.205A>G (p.Met69Val) rs372066126 0.00002
NM_022787.4(NMNAT1):c.-72G>A rs1475372376 0.00001
NM_022787.4(NMNAT1):c.439G>C (p.Ala147Pro) rs1570715470 0.00001
NM_022787.4(NMNAT1):c.532G>A (p.Val178Met) rs757724544 0.00001
NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser) rs748902766 0.00001
NM_022787.4(NMNAT1):c.542A>G (p.Tyr181Cys) rs748913297 0.00001
NM_022787.4(NMNAT1):c.-57+10C>T rs1640875786
NM_022787.4(NMNAT1):c.-57+4A>G rs957312118
NM_022787.4(NMNAT1):c.-57G>T rs1640875002
NM_022787.4(NMNAT1):c.179T>G (p.Leu60Arg) rs1641789657
NM_022787.4(NMNAT1):c.238G>A (p.Val80Met) rs1641791811
NM_022787.4(NMNAT1):c.244G>T (p.Val82Phe) rs1641792104
NM_022787.4(NMNAT1):c.458T>C (p.Leu153Pro) rs1641966303
NM_022787.4(NMNAT1):c.500A>T (p.Asn167Ile) rs1405020783
NM_022787.4(NMNAT1):c.518A>G (p.Asp173Gly) rs1641967500
NM_022787.4(NMNAT1):c.647G>C (p.Trp216Ser) rs771954272
NM_022787.4(NMNAT1):c.650T>A (p.Ile217Asn) rs1641971124
NM_022787.4(NMNAT1):c.717G>T (p.Leu239Phe) rs1641973290
NM_022787.4(NMNAT1):c.752A>C (p.His251Pro) rs1208495291

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