ClinVar Miner

List of variants reported as pathogenic for Leber congenital amaurosis 15

Included ClinVar conditions (2):
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Total variants: 14
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HGVS dbSNP
NM_003322.6(TULP1):c.1102G>T (p.Gly368Trp) rs387906837
NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser) rs121909076
NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp) rs387906836
NM_003322.6(TULP1):c.1204G>T (p.Glu402Ter) rs387906835
NM_003322.6(TULP1):c.1259G>C (p.Arg420Pro) rs121909073
NM_003322.6(TULP1):c.1376T>A (p.Ile459Lys) rs121909075
NM_003322.6(TULP1):c.1444C>T (p.Arg482Trp) rs121909077
NM_003322.6(TULP1):c.1471T>C (p.Phe491Leu) rs121909074
NM_003322.6(TULP1):c.1495+1G>A rs281865168
TULP1, 11-BP DEL, NT1511
TULP1, 6-BP DUP, NT1593
TULP1, IVS14DS, G-A, +1
TULP1, IVS2DS, G-A, +1
TULP1, IVS7DS, T-C, +2

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