ClinVar Miner

List of variants studied for Pierson syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 124
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HGVS dbSNP gnomAD frequency
NM_002292.4(LAMB2):c.2959G>A (p.Glu987Lys) rs34759087 0.09080
NM_002292.4(LAMB2):c.3387A>G (p.Gln1129=) rs34290943 0.09068
NM_002292.4(LAMB2):c.2740G>A (p.Gly914Arg) rs35713889 0.03588
NM_002292.4(LAMB2):c.306C>T (p.Asn102=) rs79448908 0.02014
NM_002292.4(LAMB2):c.5293G>A (p.Ala1765Thr) rs74951356 0.01940
NM_002292.4(LAMB2):c.1764C>T (p.Pro588=) rs33942096 0.01677
NM_002292.4(LAMB2):c.1724G>A (p.Arg575Gln) rs61729152 0.01347
NM_002292.4(LAMB2):c.4774C>T (p.Arg1592Trp) rs61729458 0.01273
NM_002292.4(LAMB2):c.1193C>T (p.Thr398Ile) rs77500937 0.00775
NM_002292.4(LAMB2):c.2673C>T (p.Gly891=) rs144092322 0.00741
NM_002292.4(LAMB2):c.3443G>A (p.Arg1148His) rs138774635 0.00663
NM_002292.4(LAMB2):c.4222C>T (p.Leu1408=) rs143974640 0.00662
NM_002292.4(LAMB2):c.3110-15T>C rs147446447 0.00622
NM_002292.4(LAMB2):c.4034G>A (p.Arg1345His) rs75073433 0.00463
NM_002292.4(LAMB2):c.3858G>T (p.Val1286=) rs34967349 0.00312
NM_002292.4(LAMB2):c.109C>G (p.Pro37Ala) rs144765752 0.00242
NM_002292.4(LAMB2):c.2307C>T (p.Leu769=) rs147076626 0.00235
NM_002292.4(LAMB2):c.3875A>T (p.Asn1292Ile) rs148246465 0.00175
NM_002292.4(LAMB2):c.5166A>G (p.Gln1722=) rs114485284 0.00173
NM_002292.4(LAMB2):c.510C>T (p.Arg170=) rs149856537 0.00167
NM_002292.4(LAMB2):c.4163G>A (p.Arg1388Gln) rs146522641 0.00159
NM_002292.4(LAMB2):c.3645G>A (p.Ala1215=) rs13082063 0.00137
NM_002292.4(LAMB2):c.1306G>A (p.Gly436Ser) rs142402808 0.00096
NM_002292.4(LAMB2):c.-112A>T rs546461860 0.00088
NM_002292.4(LAMB2):c.4118A>G (p.Asp1373Gly) rs112933248 0.00076
NM_002292.4(LAMB2):c.3582C>T (p.Phe1194=) rs138540017 0.00068
NM_002292.4(LAMB2):c.816T>C (p.Tyr272=) rs151251039 0.00061
NM_002292.4(LAMB2):c.3325G>A (p.Glu1109Lys) rs79677861 0.00036
NM_002292.4(LAMB2):c.1305C>T (p.Ser435=) rs144530798 0.00034
NM_002292.4(LAMB2):c.5039C>T (p.Ala1680Val) rs141473691 0.00033
NM_002292.4(LAMB2):c.2922G>C (p.Gly974=) rs145465720 0.00031
NM_002292.4(LAMB2):c.2095G>C (p.Gly699Arg) rs28364667 0.00030
NM_002292.4(LAMB2):c.4370G>A (p.Arg1457Gln) rs148818522 0.00029
NM_002292.4(LAMB2):c.4140C>A (p.Asn1380Lys) rs267607207 0.00028
NM_002292.4(LAMB2):c.5142G>A (p.Lys1714=) rs139511264 0.00027
NM_002292.4(LAMB2):c.2322C>G (p.Thr774=) rs142116851 0.00026
NM_002292.4(LAMB2):c.101C>A (p.Ala34Asp) rs202057459 0.00024
NM_002292.4(LAMB2):c.5233G>A (p.Ala1745Thr) rs142041381 0.00021
NM_002292.4(LAMB2):c.253G>A (p.Glu85Lys) rs140371771 0.00020
NM_002292.4(LAMB2):c.4149C>A (p.His1383Gln) rs150064487 0.00019
NM_002292.4(LAMB2):c.5109C>T (p.Arg1703=) rs151292828 0.00018
NM_002292.4(LAMB2):c.1797C>T (p.Phe599=) rs376785056 0.00016
NM_002292.4(LAMB2):c.4878G>A (p.Arg1626=) rs148648480 0.00016
NM_002292.4(LAMB2):c.284G>A (p.Arg95His) rs147691227 0.00014
NM_002292.4(LAMB2):c.4148A>G (p.His1383Arg) rs754983373 0.00014
NM_002292.4(LAMB2):c.1206G>A (p.Arg402=) rs201999373 0.00012
NM_002292.4(LAMB2):c.1442G>A (p.Ser481Asn) rs144230655 0.00012
NM_002292.4(LAMB2):c.5286T>C (p.Asn1762=) rs781092208 0.00012
NM_002292.4(LAMB2):c.3355G>A (p.Gly1119Ser) rs199570781 0.00011
NM_002292.4(LAMB2):c.2639A>G (p.Asn880Ser) rs781619412 0.00009
NM_002292.4(LAMB2):c.2489-7C>T rs374958213 0.00008
NM_002292.4(LAMB2):c.2295C>T (p.Cys765=) rs201289156 0.00007
NM_002292.4(LAMB2):c.795G>A (p.Glu265=) rs375953746 0.00007
NM_002292.4(LAMB2):c.*92A>G rs886058670 0.00006
NM_002292.4(LAMB2):c.1750C>A (p.Arg584Ser) rs369408727 0.00006
NM_002292.4(LAMB2):c.2099G>A (p.Gly700Glu) rs142860588 0.00006
NM_002292.4(LAMB2):c.280C>T (p.Arg94Trp) rs754551568 0.00006
NM_002292.4(LAMB2):c.3232C>T (p.Arg1078Cys) rs143284092 0.00006
NM_002292.4(LAMB2):c.3498A>G (p.Pro1166=) rs186771094 0.00006
NM_002292.4(LAMB2):c.385+5G>A rs540191089 0.00006
NM_002292.4(LAMB2):c.915+6G>A rs2071677 0.00006
NM_002292.4(LAMB2):c.3324C>T (p.Asn1108=) rs757491995 0.00005
NM_002292.4(LAMB2):c.386-15C>T rs117575041 0.00005
NM_002292.3(LAMB2):c.-241T>C rs886058680 0.00004
NM_002292.4(LAMB2):c.1391G>A (p.Arg464His) rs188487818 0.00004
NM_002292.4(LAMB2):c.2089C>T (p.Arg697Trp) rs149304508 0.00004
NM_002292.4(LAMB2):c.2262G>A (p.Leu754=) rs756931255 0.00004
NM_002292.4(LAMB2):c.4043A>G (p.Asn1348Ser) rs771215576 0.00004
NM_002292.4(LAMB2):c.4369C>T (p.Arg1457Trp) rs151037751 0.00004
NM_002292.4(LAMB2):c.5021G>A (p.Arg1674Gln) rs764128779 0.00004
NM_002292.4(LAMB2):c.1423C>T (p.Arg475Trp) rs144487632 0.00003
NM_002292.4(LAMB2):c.2219G>A (p.Arg740His) rs781721930 0.00003
NM_002292.4(LAMB2):c.2459A>T (p.Tyr820Phe) rs746761674 0.00003
NM_002292.4(LAMB2):c.2774G>A (p.Arg925Gln) rs536235346 0.00003
NM_002292.4(LAMB2):c.4011T>C (p.His1337=) rs886058671 0.00003
NM_002292.4(LAMB2):c.76+10C>T rs370554848 0.00003
NM_002292.4(LAMB2):c.2296G>A (p.Ala766Thr) rs763101025 0.00002
NM_002292.4(LAMB2):c.250-14C>T rs371403310 0.00002
NM_002292.4(LAMB2):c.2810G>A (p.Arg937Gln) rs201235061 0.00002
NM_002292.4(LAMB2):c.2870G>A (p.Arg957Gln) rs764846938 0.00002
NM_002292.4(LAMB2):c.3115A>C (p.Thr1039Pro) rs747604203 0.00002
NM_002292.4(LAMB2):c.3273T>C (p.Gly1091=) rs369406683 0.00002
NM_002292.4(LAMB2):c.3837C>T (p.Leu1279=) rs775950352 0.00002
NM_002292.4(LAMB2):c.5026G>A (p.Gly1676Arg) rs200747448 0.00002
NM_002292.4(LAMB2):c.5027G>T (p.Gly1676Val) rs199580679 0.00002
NM_002292.4(LAMB2):c.991C>T (p.Leu331=) rs561241970 0.00002
NM_002292.4(LAMB2):c.1357C>T (p.Arg453Cys) rs765252703 0.00001
NM_002292.4(LAMB2):c.2435G>A (p.Arg812His) rs886058674 0.00001
NM_002292.4(LAMB2):c.2506G>A (p.Glu836Lys) rs547498421 0.00001
NM_002292.4(LAMB2):c.2720+13C>A rs369359244 0.00001
NM_002292.4(LAMB2):c.3071C>T (p.Pro1024Leu) rs368506627 0.00001
NM_002292.4(LAMB2):c.3109+13G>C rs750600086 0.00001
NM_002292.4(LAMB2):c.3547A>G (p.Ile1183Val) rs370877359 0.00001
NM_002292.4(LAMB2):c.3664G>C (p.Gly1222Arg) rs748563846 0.00001
NM_002292.4(LAMB2):c.4482C>T (p.Ala1494=) rs199894011 0.00001
NM_002292.4(LAMB2):c.4489A>G (p.Lys1497Glu) rs771769006 0.00001
NM_002292.4(LAMB2):c.4954G>A (p.Ala1652Thr) rs1294654447 0.00001
NM_002292.3(LAMB2):c.-200C>T rs886058679
NM_002292.3(LAMB2):c.-252T>C rs886058681
NM_002292.3(LAMB2):c.-279A>T rs886058682
NM_002292.4(LAMB2):c.-12C>A rs768032929
NM_002292.4(LAMB2):c.-146G>T rs886058678
NM_002292.4(LAMB2):c.1499G>A (p.Arg500His) rs759499306
NM_002292.4(LAMB2):c.1831C>T (p.Leu611=) rs886058676
NM_002292.4(LAMB2):c.2154G>A (p.Leu718=) rs886058675
NM_002292.4(LAMB2):c.261G>A (p.Lys87=) rs149408554
NM_002292.4(LAMB2):c.2798C>G (p.Pro933Arg) rs2045396597
NM_002292.4(LAMB2):c.2884+15del rs769133638
NM_002292.4(LAMB2):c.3036C>T (p.His1012=) rs777538430
NM_002292.4(LAMB2):c.310C>T (p.His104Tyr) rs552475229
NM_002292.4(LAMB2):c.3198A>G (p.Pro1066=) rs886058673
NM_002292.4(LAMB2):c.3425-7C>A rs2045383891
NM_002292.4(LAMB2):c.3644C>G (p.Ala1215Gly) rs140456179
NM_002292.4(LAMB2):c.3995G>A (p.Ser1332Asn) rs980152482
NM_002292.4(LAMB2):c.4007C>T (p.Ala1336Val) rs886058672
NM_002292.4(LAMB2):c.4134C>T (p.Asp1378=) rs774234171
NM_002292.4(LAMB2):c.4689C>T (p.Val1563=) rs2045317445
NM_002292.4(LAMB2):c.478A>G (p.Met160Val) rs2045483964
NM_002292.4(LAMB2):c.5061G>T (p.Thr1687=) rs150465100
NM_002292.4(LAMB2):c.5350C>T (p.Leu1784Phe) rs2045219198
NM_002292.4(LAMB2):c.539A>G (p.Tyr180Cys) rs1335383406
NM_002292.4(LAMB2):c.563G>A (p.Gly188Glu) rs2045483102
NM_002292.4(LAMB2):c.740T>C (p.Val247Ala) rs747693090
NM_002292.4(LAMB2):c.916-4A>G rs886058677

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