ClinVar Miner

List of variants studied for Leber congenital amaurosis by Counsyl

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_000329.3(RPE65):c.1155G>A (p.Thr385=) rs62653014
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040
NM_000329.3(RPE65):c.1302G>A (p.Ala434=) rs62636301
NM_000329.3(RPE65):c.1302G>C (p.Ala434=) rs62636301
NM_000329.3(RPE65):c.1338+20A>C rs12564647
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878
NM_000329.3(RPE65):c.48T>C (p.Phe16=) rs62642581
NM_000329.3(RPE65):c.644-42del rs61752893
NM_000329.3(RPE65):c.644-43del rs61752894
NM_000329.3(RPE65):c.755T>C (p.Phe252Ser) rs1553153135
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901
NM_000329.3(RPE65):c.95-2A>T rs61751279
NM_000329.3(RPE65):c.978G>T (p.Val326=) rs61752907
NM_000329.3(RPE65):c.982C>T (p.Leu328Phe) rs1169420841

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