ClinVar Miner

List of variants reported as pathogenic for Leber congenital amaurosis by Human Genetics - Radboudumc,Radboudumc

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_000180.3(GUCY2D):c.2303G>A (p.Arg768Gln)
NM_000329.2(RPE65):c.715T>G (p.Tyr239Asp) rs61752896
NM_006915.2(RP2):c.486_490del (p.Gly163Lysfs)
NM_014249.3(NR2E3):c.1171_1172del (p.Phe391Profs)
NM_018418.4(SPATA7):c.1171C>T (p.Arg391Ter) rs374268850
NM_019098.4(CNGB3):c.1148delC (p.Thr383Ilefs) rs397515360
NM_019098.4(CNGB3):c.819_826delCAGACTCC (p.Arg274Valfs) rs775796581
NM_019098.4(CNGB3):c.991-3T>G rs773372519
NM_020366.3(RPGRIP1):c.2718dup (p.Asn907Terfs)
NM_020366.3(RPGRIP1):c.799C>T (p.Arg267Ter)
NM_025114.3(CEP290):c.4960C>T (p.Gln1654Ter)

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