ClinVar Miner

List of variants studied for Leber congenital amaurosis by Human Genetics - Radboudumc,Radboudumc

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_000180.3(GUCY2D):c.2303G>A (p.Arg768Gln)
NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser) rs1395763356
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp) rs61752896
NM_006915.3(RP2):c.486_490del (p.Gly163fs) rs1569531639
NM_014249.4(NR2E3):c.1171_1172del (p.Phe391fs) rs574936510
NM_018418.5(SPATA7):c.1171C>T (p.Arg391Ter) rs374268850
NM_018418.5(SPATA7):c.19G>T (p.Val7Phe)
NM_019098.4(CNGB3):c.1148del (p.Thr383fs) rs397515360
NM_019098.4(CNGB3):c.819_826del (p.Arg274fs) rs775796581
NM_019098.4(CNGB3):c.991-3T>G rs773372519
NM_020366.3(RPGRIP1):c.2718dup (p.Asn907Ter) rs776289402
NM_020366.3(RPGRIP1):c.799C>T (p.Arg267Ter)
NM_025114.3(CEP290):c.4960C>T (p.Gln1654Ter) rs1226324483
NM_153638.3(PANK2):c.1283G>A (p.Cys428Tyr)

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