ClinVar Miner

List of variants reported as likely pathogenic for Leber congenital amaurosis by Invitae

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln) rs61751282
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) rs121917745
NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr) rs61752908
NM_000329.3(RPE65):c.991_993dup (p.Trp331dup)
NM_020366.3(RPGRIP1):c.931-2A>G
NM_152443.3(RDH12):c.157_187+178del
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp)
NM_152443.3(RDH12):c.716G>T (p.Arg239Leu) rs1239043055
NM_152443.3(RDH12):c.883C>T (p.Arg295Ter)
NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg) rs62636264
NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys)
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615

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