ClinVar Miner

List of variants studied for Leber congenital amaurosis 1 by Cytogenetics and Genomics Laboratory,Medical University of South Carolina

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) rs62642583
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser) rs1420672586
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile) rs1429137932
NM_000329.3(RPE65):c.361dup (p.Ser121fs) rs121918844
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu) rs1191496583
NM_000329.3(RPE65):c.718G>T (p.Val240Phe) rs192907397
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu) rs116733939
NM_199355.4(ADAMTS18):c.3419G>T (p.Gly1140Val) rs1567453873
NM_199355.4(ADAMTS18):c.3463C>T (p.Arg1155Trp) rs143681049
NM_206933.3(USH2A):c.14473C>T (p.His4825Tyr) rs1158010100
NM_206933.3(USH2A):c.1961T>C (p.Leu654Pro) rs1321779316
NM_206933.3(USH2A):c.2135del (p.Asn711_Ser712insTer) rs1238314101
NM_206933.3(USH2A):c.7061G>A (p.Arg2354His) rs201386640

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