ClinVar Miner

List of variants reported as likely benign for Leber congenital amaurosis 5 by Natera, Inc.

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001122769.3(LCA5):c.1642C>T (p.Pro548Ser) rs185347145 0.00042
NM_001122769.3(LCA5):c.768G>A (p.Gln256=) rs142495741 0.00024
NM_001122769.3(LCA5):c.1260G>A (p.Lys420=) rs141642284 0.00012
NM_001122769.3(LCA5):c.1800A>G (p.Lys600=) rs147032284 0.00004
NM_001122769.3(LCA5):c.1518C>T (p.Pro506=) rs769091728 0.00001
NM_001122769.3(LCA5):c.1242A>G (p.Arg414=) rs1769717155
NM_001122769.3(LCA5):c.1769A>G (p.Asp590Gly) rs771460783
NM_001122769.3(LCA5):c.1785T>A (p.Ile595=) rs544388502
NM_001122769.3(LCA5):c.642C>T (p.His214=) rs541395332
NM_001122769.3(LCA5):c.735C>T (p.Asn245=) rs781334192
NM_001122769.3(LCA5):c.759C>T (p.Phe253=) rs528612334

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