ClinVar Miner

List of variants reported as uncertain significance for central areolar choroidal dystrophy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000322.5(PRPH2):c.-60C>T rs144011444 0.00211
NM_000322.5(PRPH2):c.*351G>A rs551934443 0.00075
NM_000322.5(PRPH2):c.*152G>A rs113384495 0.00073
NM_000322.5(PRPH2):c.249C>T (p.Tyr83=) rs61755775 0.00053
NM_000322.5(PRPH2):c.*1408G>C rs573667549 0.00050
NM_000322.5(PRPH2):c.*592A>T rs573416213 0.00042
NM_000322.5(PRPH2):c.*661G>A rs753202254 0.00020
NM_000322.5(PRPH2):c.*1299C>T rs535380944 0.00019
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp) rs563581127 0.00019
NM_000322.5(PRPH2):c.-166G>A rs886061407 0.00017
NM_000322.5(PRPH2):c.*350C>T rs769850707 0.00009
NM_000322.5(PRPH2):c.*743G>A rs941727712 0.00009
NM_000322.5(PRPH2):c.*626A>G rs1383185417 0.00008
NM_000322.5(PRPH2):c.*417A>T rs531859483 0.00004
NM_000322.5(PRPH2):c.*917G>A rs185036139 0.00004
NM_000322.5(PRPH2):c.*692C>T rs949736334 0.00003
NM_000322.5(PRPH2):c.-59G>A rs886061405 0.00003
NM_000322.5(PRPH2):c.454A>G (p.Met152Val) rs146703538 0.00002
NM_000322.5(PRPH2):c.801C>T (p.Val267=) rs189358082 0.00002
NM_000322.4(PRPH2):c.-282G>A rs886061408 0.00001
NM_000322.5(PRPH2):c.*1000C>G rs1367940496 0.00001
NM_000322.5(PRPH2):c.*1007C>A rs886061400 0.00001
NM_000322.5(PRPH2):c.167A>G (p.Glu56Gly) rs1351857575 0.00001
NM_000322.5(PRPH2):c.346G>T (p.Ala116Ser) rs140227298 0.00001
NM_000322.5(PRPH2):c.374C>T (p.Ser125Leu) rs772861671 0.00001
NM_000322.5(PRPH2):c.649A>G (p.Ser217Gly) rs767471467 0.00001
NM_000322.5(PRPH2):c.*152G>C rs113384495
NM_000322.5(PRPH2):c.*1533A>G rs1799950043
NM_000322.5(PRPH2):c.*154C>T rs886061403
NM_000322.5(PRPH2):c.*1580C>G rs886061399
NM_000322.5(PRPH2):c.*213A>C rs886061402
NM_000322.5(PRPH2):c.*468_*469del rs886061401
NM_000322.5(PRPH2):c.*483_*484dup rs55851577
NM_000322.5(PRPH2):c.-116C>G rs886061406
NM_000322.5(PRPH2):c.1024G>T (p.Ala342Ser) rs1799983757
NM_000322.5(PRPH2):c.484G>A (p.Glu162Lys) rs769939935
NM_000322.5(PRPH2):c.92G>T (p.Gly31Val) rs886061404

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