ClinVar Miner

List of variants reported as uncertain significance for obsolete anophthalmia-microphthalmia syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 113
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HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.*356T>A rs774392481 0.00945
NM_007374.3(SIX6):c.385G>A (p.Glu129Lys) rs146737847 0.00428
NM_019040.5(ELP4):c.*2740G>A rs149777109 0.00394
NM_007374.3(SIX6):c.614T>G (p.Leu205Arg) rs45549246 0.00324
NM_019040.5(ELP4):c.*3242G>A rs187705792 0.00303
NM_001368894.2(PAX6):c.*357A>T rs774473337 0.00189
NM_019040.5(ELP4):c.*3904G>A rs3026397 0.00189
NM_001368894.2(PAX6):c.-107C>T rs111270711 0.00117
NM_019040.5(ELP4):c.*2982G>A rs191399467 0.00076
NM_001368894.2(PAX6):c.873G>A (p.Gln291=) rs149053004 0.00075
NM_007374.3(SIX6):c.*432G>A rs534708234 0.00074
NM_001368894.2(PAX6):c.*891G>A rs530259403 0.00065
NM_019040.5(ELP4):c.*3528A>G rs143185259 0.00060
NM_007374.3(SIX6):c.*124C>A rs918559299 0.00054
NM_007374.3(SIX6):c.-174C>G rs531110837 0.00041
NM_019040.5(ELP4):c.*2716T>C rs549835579 0.00041
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=) rs143477661 0.00038
NM_001368894.2(PAX6):c.753G>A (p.Val251=) rs145329506 0.00038
NM_007374.3(SIX6):c.637C>T (p.Pro213Ser) rs201560655 0.00035
NM_001368894.2(PAX6):c.*841C>T rs530931929 0.00031
NM_019040.5(ELP4):c.*5016T>G rs776894983 0.00031
NM_019040.5(ELP4):c.*1783T>G rs140971065 0.00030
NM_007374.3(SIX6):c.636G>C (p.Thr212=) rs140601427 0.00027
NM_001368894.2(PAX6):c.985T>C (p.Leu329=) rs373147550 0.00024
NM_019040.5(ELP4):c.*4571A>G rs1029065786 0.00024
NM_001368894.2(PAX6):c.*335T>C rs766518284 0.00020
NM_019040.5(ELP4):c.*2387C>T rs990066045 0.00020
NM_007374.3(SIX6):c.635C>T (p.Thr212Met) rs202029915 0.00018
NM_019040.5(ELP4):c.*3383C>T rs541022955 0.00017
NM_019040.5(ELP4):c.*4323G>T rs923696320 0.00011
NM_019040.5(ELP4):c.*4806T>A rs189545730 0.00011
NM_007374.3(SIX6):c.651C>T (p.Gly217=) rs368912930 0.00009
NM_019040.5(ELP4):c.*2845T>C rs1006923180 0.00008
NM_019040.5(ELP4):c.*5123T>A rs576321279 0.00008
NM_019040.5(ELP4):c.*2502G>A rs886048185 0.00007
NM_001368894.2(PAX6):c.*90A>C rs572377074 0.00006
NM_001368894.2(PAX6):c.-368G>A rs886048206 0.00006
NM_019040.5(ELP4):c.*3092T>C rs371438311 0.00006
NM_019040.5(ELP4):c.*4441T>C rs1452069622 0.00006
NM_019040.5(ELP4):c.*2664G>A rs567720234 0.00005
NM_001368894.2(PAX6):c.909T>C (p.Ser303=) rs202154006 0.00004
NM_007374.3(SIX6):c.-114G>A rs886050562 0.00004
NM_007374.3(SIX6):c.572+15G>A rs200537449 0.00004
NM_007374.3(SIX6):c.725G>T (p.Ser242Ile) rs746623345 0.00004
NM_007374.3(SIX6):c.726C>T (p.Ser242=) rs770148963 0.00004
NM_019040.5(ELP4):c.*3207T>C rs1010978990 0.00004
NM_007374.3(SIX6):c.*210G>T rs751976804 0.00003
NM_019040.5(ELP4):c.*1877A>G rs745626044 0.00003
NM_019040.5(ELP4):c.*3303G>A rs994285025 0.00003
NM_019040.5(ELP4):c.*3504T>C rs886048187 0.00003
NM_019040.5(ELP4):c.*3920C>T rs886048191 0.00003
NM_001368894.2(PAX6):c.-316-8C>G rs566281941 0.00002
NM_001368894.2(PAX6):c.-430G>C rs886048207 0.00002
NM_019040.5(ELP4):c.*1714C>G rs180780893 0.00002
NM_001368894.2(PAX6):c.*207G>A rs886048199 0.00001
NM_001368894.2(PAX6):c.*226T>C rs753595935 0.00001
NM_001368894.2(PAX6):c.*272T>G rs934715799 0.00001
NM_001368894.2(PAX6):c.*626G>C rs1250874661 0.00001
NM_001368894.2(PAX6):c.-59G>T rs886048204 0.00001
NM_001368894.2(PAX6):c.317G>A (p.Arg106Gln) rs769095184 0.00001
NM_001368894.2(PAX6):c.560C>T (p.Thr187Met) rs1159095794 0.00001
NM_001368894.2(PAX6):c.972A>T (p.Thr324=) rs779631884 0.00001
NM_001368894.2(PAX6):c.992G>A (p.Arg331Gln) rs75572362 0.00001
NM_007374.3(SIX6):c.*298A>G rs886050565 0.00001
NM_007374.3(SIX6):c.389A>G (p.Gln130Arg) rs367714528 0.00001
NM_007374.3(SIX6):c.714G>T (p.Thr238=) rs779776142 0.00001
NM_019040.5(ELP4):c.*1404G>C rs748381549 0.00001
NM_019040.5(ELP4):c.*4889G>A rs886048196 0.00001
NM_019040.5(ELP4):c.*5357A>G rs886048197 0.00001
NM_019040.5(ELP4):c.*5471T>C rs886048198 0.00001
NM_001368894.2(PAX6):c.*107G>C rs886048201
NM_001368894.2(PAX6):c.*247T>A rs1468270124
NM_001368894.2(PAX6):c.-167G>T rs1956928845
NM_001368894.2(PAX6):c.-507T>C rs886048209
NM_001368894.2(PAX6):c.184-8C>T rs886048203
NM_001368894.2(PAX6):c.219G>A (p.Arg73=) rs1953969921
NM_001368894.2(PAX6):c.453G>A (p.Met151Ile) rs371018133
NM_001368894.2(PAX6):c.511G>A (p.Gly171Ser) rs1953501315
NM_001368894.2(PAX6):c.589G>C (p.Gly197Arg) rs886048202
NM_001368894.2(PAX6):c.690C>T (p.Ser230=) rs373715028
NM_001368894.2(PAX6):c.81G>A (p.Gln27=) rs1954524676
NM_001368894.2(PAX6):c.885A>G (p.Thr295=) rs1592415376
NM_007374.3(SIX6):c.*121A>T rs1037028804
NM_007374.3(SIX6):c.*232C>T rs886050564
NM_007374.3(SIX6):c.*409T>G rs886050566
NM_007374.3(SIX6):c.*462A>G rs578089642
NM_007374.3(SIX6):c.18C>A (p.Ile6=) rs150715226
NM_007374.3(SIX6):c.573-6C>G rs770759922
NM_007374.3(SIX6):c.607C>T (p.Arg203Trp) rs886050563
NM_007374.3(SIX6):c.96C>T (p.Arg32=) rs756798787
NM_013435.3(RAX):c.*1358del rs886054023
NM_013435.3(RAX):c.*1372del rs543386393
NM_013435.3(RAX):c.*1373_*1374del rs886054020
NM_013435.3(RAX):c.*1373del rs149204757
NM_019040.5(ELP4):c.*1615A>C rs1171230486
NM_019040.5(ELP4):c.*1626G>A rs1269133831
NM_019040.5(ELP4):c.*2041C>G rs544117348
NM_019040.5(ELP4):c.*2049A>G rs886048181
NM_019040.5(ELP4):c.*2282G>A rs886048182
NM_019040.5(ELP4):c.*2334T>G rs886048183
NM_019040.5(ELP4):c.*2407C>A rs886048184
NM_019040.5(ELP4):c.*2522G>T rs1948594512
NM_019040.5(ELP4):c.*2992G>A rs1948639449
NM_019040.5(ELP4):c.*3588A>G rs906435505
NM_019040.5(ELP4):c.*3706T>A rs1948715280
NM_019040.5(ELP4):c.*3715T>A rs558836571
NM_019040.5(ELP4):c.*3772G>C rs865924000
NM_019040.5(ELP4):c.*3978T>C rs886048192
NM_019040.5(ELP4):c.*4017A>G rs886048193
NM_019040.5(ELP4):c.*4025C>G rs886048195
NM_019040.5(ELP4):c.*4056G>A rs1948752515
NM_019040.5(ELP4):c.*4251G>A rs3026396
NM_019040.5(ELP4):c.*4542G>T rs1948792866

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