ClinVar Miner

List of variants reported as uncertain significance for Donnai-Barrow syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 228
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HGVS dbSNP gnomAD frequency
NM_004525.3(LRP2):c.6858T>A (p.Phe2286Leu) rs140918583 0.00089
NM_004525.3(LRP2):c.11288A>T (p.Glu3763Val) rs200475391 0.00045
NM_004525.3(LRP2):c.3075G>C (p.Gln1025His) rs374011295 0.00024
NM_004525.3(LRP2):c.652+4C>T rs192813501 0.00024
NM_004525.3(LRP2):c.1555C>T (p.Pro519Ser) rs147981204 0.00019
NM_004525.3(LRP2):c.10282A>G (p.Arg3428Gly) rs147267007 0.00018
NM_004525.3(LRP2):c.7721G>C (p.Arg2574Thr) rs149675661 0.00018
NM_004525.3(LRP2):c.10203G>A (p.Thr3401=) rs760898762 0.00016
NM_004525.3(LRP2):c.5155G>C (p.Gly1719Arg) rs144054579 0.00016
NM_004525.3(LRP2):c.5959G>A (p.Asp1987Asn) rs77017461 0.00016
NM_004525.3(LRP2):c.7801T>C (p.Tyr2601His) rs554748412 0.00016
NM_004525.3(LRP2):c.8132G>A (p.Arg2711His) rs190037522 0.00015
NM_004525.3(LRP2):c.10633C>A (p.Leu3545Met) rs150920674 0.00014
NM_004525.3(LRP2):c.12923C>T (p.Thr4308Met) rs543890594 0.00014
NM_004525.3(LRP2):c.6373C>T (p.Arg2125Cys) rs375749752 0.00014
NM_004525.3(LRP2):c.5005A>G (p.Asn1669Asp) rs143413559 0.00013
NM_004525.3(LRP2):c.9432G>A (p.Met3144Ile) rs566869929 0.00013
NM_004525.3(LRP2):c.12476C>T (p.Ser4159Leu) rs147846992 0.00011
NM_004525.3(LRP2):c.2639C>T (p.Ala880Val) rs761993567 0.00011
NM_004525.3(LRP2):c.2987G>A (p.Arg996Gln) rs201115003 0.00011
NM_004525.3(LRP2):c.6689C>T (p.Ser2230Leu) rs374860840 0.00011
NM_004525.3(LRP2):c.8609A>G (p.Gln2870Arg) rs760630762 0.00011
NM_004525.3(LRP2):c.10398C>A (p.Ser3466Arg) rs148506069 0.00010
NM_004525.3(LRP2):c.12165G>C (p.Leu4055Phe) rs142650566 0.00010
NM_004525.3(LRP2):c.4672G>A (p.Ala1558Thr) rs769548930 0.00010
NM_004525.3(LRP2):c.11851G>A (p.Asp3951Asn) rs761977482 0.00009
NM_004525.3(LRP2):c.2422A>G (p.Ile808Val) rs772261621 0.00009
NM_004525.3(LRP2):c.3668-3T>A rs754632512 0.00009
NM_004525.3(LRP2):c.4604T>C (p.Val1535Ala) rs754354761 0.00009
NM_004525.3(LRP2):c.5095A>G (p.Asn1699Asp) rs774435995 0.00009
NM_004525.3(LRP2):c.7514G>A (p.Arg2505His) rs371708810 0.00009
NM_004525.3(LRP2):c.9811G>A (p.Ala3271Thr) rs1051668841 0.00009
NM_004525.3(LRP2):c.9945C>A (p.Asn3315Lys) rs201808907 0.00009
NM_004525.3(LRP2):c.13190C>T (p.Pro4397Leu) rs759734710 0.00008
NM_004525.3(LRP2):c.4496A>G (p.Asp1499Gly) rs748769984 0.00008
NM_004525.3(LRP2):c.3190A>G (p.Asn1064Asp) rs916737558 0.00007
NM_004525.3(LRP2):c.6233T>G (p.Leu2078Trp) rs760347752 0.00007
NM_004525.3(LRP2):c.6770T>C (p.Ile2257Thr) rs202118469 0.00007
NM_004525.3(LRP2):c.2435G>A (p.Arg812Lys) rs376367082 0.00006
NM_004525.3(LRP2):c.2455C>T (p.Arg819Cys) rs749942746 0.00006
NM_004525.3(LRP2):c.2540G>A (p.Arg847His) rs537125368 0.00006
NM_004525.3(LRP2):c.4234C>T (p.Arg1412Trp) rs145669628 0.00006
NM_004525.3(LRP2):c.4745C>T (p.Ala1582Val) rs183726294 0.00006
NM_004525.3(LRP2):c.6650G>A (p.Arg2217His) rs369240219 0.00006
NM_004525.3(LRP2):c.6766G>T (p.Asp2256Tyr) rs143262722 0.00006
NM_004525.3(LRP2):c.7261G>A (p.Val2421Ile) rs138673723 0.00006
NM_004525.3(LRP2):c.7493C>G (p.Ser2498Cys) rs142613860 0.00006
NM_004525.3(LRP2):c.7498C>T (p.Arg2500Cys) rs201081898 0.00006
NM_004525.3(LRP2):c.8513G>A (p.Arg2838His) rs142214474 0.00006
NM_004525.3(LRP2):c.9124G>A (p.Gly3042Arg) rs376039022 0.00006
NM_004525.3(LRP2):c.10681A>G (p.Ser3561Gly) rs112419538 0.00005
NM_004525.3(LRP2):c.10921C>T (p.Arg3641Trp) rs373064113 0.00005
NM_004525.3(LRP2):c.11461G>A (p.Ala3821Thr) rs778317120 0.00005
NM_004525.3(LRP2):c.12124C>T (p.Arg4042Cys) rs752766559 0.00005
NM_004525.3(LRP2):c.2113A>G (p.Ile705Val) rs140552043 0.00005
NM_004525.3(LRP2):c.4732C>T (p.Arg1578Cys) rs768876882 0.00005
NM_004525.3(LRP2):c.8530G>A (p.Gly2844Arg) rs533432746 0.00005
NM_004525.3(LRP2):c.9539C>T (p.Pro3180Leu) rs753134418 0.00005
NM_004525.3(LRP2):c.101G>A (p.Arg34His) rs186568676 0.00004
NM_004525.3(LRP2):c.10307A>T (p.Tyr3436Phe) rs201200378 0.00004
NM_004525.3(LRP2):c.10415A>G (p.Asn3472Ser) rs755241846 0.00004
NM_004525.3(LRP2):c.10559C>T (p.Ala3520Val) rs150113078 0.00004
NM_004525.3(LRP2):c.10757G>A (p.Arg3586His) rs762352363 0.00004
NM_004525.3(LRP2):c.11072G>A (p.Arg3691His) rs142884214 0.00004
NM_004525.3(LRP2):c.11498-15T>C rs534214309 0.00004
NM_004525.3(LRP2):c.12350G>A (p.Arg4117His) rs761475630 0.00004
NM_004525.3(LRP2):c.13306G>A (p.Val4436Ile) rs750736741 0.00004
NM_004525.3(LRP2):c.1703C>T (p.Ser568Leu) rs141305635 0.00004
NM_004525.3(LRP2):c.2485C>T (p.Arg829Trp) rs368619363 0.00004
NM_004525.3(LRP2):c.2512G>A (p.Gly838Arg) rs374039326 0.00004
NM_004525.3(LRP2):c.2530G>A (p.Asp844Asn) rs1478550190 0.00004
NM_004525.3(LRP2):c.2930C>A (p.Pro977His) rs766831061 0.00004
NM_004525.3(LRP2):c.3650C>T (p.Ser1217Leu) rs768863475 0.00004
NM_004525.3(LRP2):c.3794C>T (p.Ala1265Val) rs750783356 0.00004
NM_004525.3(LRP2):c.478A>G (p.Thr160Ala) rs748258028 0.00004
NM_004525.3(LRP2):c.512G>C (p.Arg171Thr) rs184319574 0.00004
NM_004525.3(LRP2):c.6649C>T (p.Arg2217Cys) rs914080135 0.00004
NM_004525.3(LRP2):c.7006C>T (p.Arg2336Trp) rs149849411 0.00004
NM_004525.3(LRP2):c.8603A>C (p.Glu2868Ala) rs149252072 0.00004
NM_004525.3(LRP2):c.8846C>T (p.Ser2949Leu) rs200068217 0.00004
NM_004525.3(LRP2):c.9032+5A>G rs371476119 0.00004
NM_004525.3(LRP2):c.9265G>A (p.Glu3089Lys) rs745739674 0.00004
NM_004525.3(LRP2):c.9846A>G (p.Arg3282=) rs202135090 0.00004
NM_004525.3(LRP2):c.9895C>T (p.Leu3299Phe) rs143920714 0.00004
NM_004525.3(LRP2):c.11328G>T (p.Trp3776Cys) rs758068621 0.00003
NM_004525.3(LRP2):c.11419A>G (p.Ser3807Gly) rs571830028 0.00003
NM_004525.3(LRP2):c.11590G>A (p.Asp3864Asn) rs151286117 0.00003
NM_004525.3(LRP2):c.11605G>A (p.Asp3869Asn) rs766415685 0.00003
NM_004525.3(LRP2):c.12385A>G (p.Asn4129Asp) rs1014040945 0.00003
NM_004525.3(LRP2):c.12590G>C (p.Gly4197Ala) rs140499844 0.00003
NM_004525.3(LRP2):c.13384C>T (p.Pro4462Ser) rs747641533 0.00003
NM_004525.3(LRP2):c.1388A>G (p.Asn463Ser) rs202154723 0.00003
NM_004525.3(LRP2):c.1435A>C (p.Asn479His) rs771749233 0.00003
NM_004525.3(LRP2):c.188C>T (p.Ala63Val) rs150829296 0.00003
NM_004525.3(LRP2):c.3013A>G (p.Arg1005Gly) rs368148692 0.00003
NM_004525.3(LRP2):c.4979G>A (p.Arg1660His) rs373017594 0.00003
NM_004525.3(LRP2):c.667G>A (p.Gly223Ser) rs528193479 0.00003
NM_004525.3(LRP2):c.9178G>A (p.Gly3060Arg) rs773430993 0.00003
NM_004525.3(LRP2):c.9221C>T (p.Thr3074Met) rs755568696 0.00003
NM_004525.3(LRP2):c.10790A>G (p.Asn3597Ser) rs777356886 0.00002
NM_004525.3(LRP2):c.10948C>A (p.Gln3650Lys) rs766032786 0.00002
NM_004525.3(LRP2):c.11416A>G (p.Thr3806Ala) rs373490312 0.00002
NM_004525.3(LRP2):c.13303G>A (p.Val4435Ile) rs751890334 0.00002
NM_004525.3(LRP2):c.13807A>G (p.Asn4603Asp) rs112842952 0.00002
NM_004525.3(LRP2):c.13847C>T (p.Ser4616Leu) rs140802648 0.00002
NM_004525.3(LRP2):c.13853C>T (p.Ser4618Leu) rs142430940 0.00002
NM_004525.3(LRP2):c.13919A>T (p.Asp4640Val) rs760457856 0.00002
NM_004525.3(LRP2):c.1600G>C (p.Gly534Arg) rs781156096 0.00002
NM_004525.3(LRP2):c.22G>A (p.Val8Met) rs747080240 0.00002
NM_004525.3(LRP2):c.2782T>G (p.Phe928Val) rs200192222 0.00002
NM_004525.3(LRP2):c.3573A>G (p.Gln1191=) rs750430784 0.00002
NM_004525.3(LRP2):c.535T>C (p.Cys179Arg) rs901055782 0.00002
NM_004525.3(LRP2):c.5458G>A (p.Val1820Met) rs753390400 0.00002
NM_004525.3(LRP2):c.5813C>T (p.Thr1938Ile) rs768756085 0.00002
NM_004525.3(LRP2):c.6541C>T (p.Arg2181Cys) rs759670096 0.00002
NM_004525.3(LRP2):c.6815G>A (p.Arg2272His) rs1244543854 0.00002
NM_004525.3(LRP2):c.698G>A (p.Arg233Gln) rs925251257 0.00002
NM_004525.3(LRP2):c.7060T>C (p.Ser2354Pro) rs761522865 0.00002
NM_004525.3(LRP2):c.7661G>A (p.Ser2554Asn) rs200633361 0.00002
NM_004525.3(LRP2):c.8000C>T (p.Ala2667Val) rs774660433 0.00002
NM_004525.3(LRP2):c.8141C>T (p.Ser2714Leu) rs774369141 0.00002
NM_004525.3(LRP2):c.8581A>G (p.Thr2861Ala) rs763428791 0.00002
NM_004525.3(LRP2):c.8764G>A (p.Glu2922Lys) rs370790771 0.00002
NM_004525.3(LRP2):c.8848G>T (p.Asp2950Tyr) rs770098442 0.00002
NM_004525.3(LRP2):c.8854G>A (p.Glu2952Lys) rs138894447 0.00002
NM_004525.3(LRP2):c.8872G>T (p.Asp2958Tyr) rs1303301378 0.00002
NM_004525.3(LRP2):c.9032+6T>G rs368040043 0.00002
NM_004525.3(LRP2):c.10226A>G (p.His3409Arg) rs763431942 0.00001
NM_004525.3(LRP2):c.10234G>A (p.Ala3412Thr) rs147922851 0.00001
NM_004525.3(LRP2):c.10703C>T (p.Pro3568Leu) rs753477259 0.00001
NM_004525.3(LRP2):c.10768G>A (p.Glu3590Lys) rs1412113808 0.00001
NM_004525.3(LRP2):c.10814G>A (p.Arg3605His) rs780595186 0.00001
NM_004525.3(LRP2):c.10894A>G (p.Ser3632Gly) rs17848188 0.00001
NM_004525.3(LRP2):c.11015T>C (p.Met3672Thr) rs760404717 0.00001
NM_004525.3(LRP2):c.11150G>C (p.Arg3717Thr) rs1165934355 0.00001
NM_004525.3(LRP2):c.11287G>A (p.Glu3763Lys) rs775918663 0.00001
NM_004525.3(LRP2):c.11554C>G (p.His3852Asp) rs747599660 0.00001
NM_004525.3(LRP2):c.1204C>T (p.Arg402Trp) rs780687414 0.00001
NM_004525.3(LRP2):c.1240T>C (p.Phe414Leu) rs750836745 0.00001
NM_004525.3(LRP2):c.12453G>C (p.Trp4151Cys) rs886055079 0.00001
NM_004525.3(LRP2):c.1268G>A (p.Arg423His) rs1386254805 0.00001
NM_004525.3(LRP2):c.13181C>T (p.Thr4394Ile) rs1482750340 0.00001
NM_004525.3(LRP2):c.13238C>T (p.Ala4413Val) rs144456548 0.00001
NM_004525.3(LRP2):c.13366C>T (p.Pro4456Ser) rs772901117 0.00001
NM_004525.3(LRP2):c.13936G>A (p.Ala4646Thr) rs202210831 0.00001
NM_004525.3(LRP2):c.1496G>A (p.Ser499Asn) rs750613446 0.00001
NM_004525.3(LRP2):c.1549G>A (p.Val517Met) rs770524674 0.00001
NM_004525.3(LRP2):c.1607C>G (p.Pro536Arg) rs754796717 0.00001
NM_004525.3(LRP2):c.1642C>T (p.Arg548Cys) rs201490492 0.00001
NM_004525.3(LRP2):c.1653G>T (p.Leu551Phe) rs1416270515 0.00001
NM_004525.3(LRP2):c.1937A>G (p.Tyr646Cys) rs566216372 0.00001
NM_004525.3(LRP2):c.2489C>T (p.Ser830Leu) rs767925581 0.00001
NM_004525.3(LRP2):c.2539C>T (p.Arg847Cys) rs773623041 0.00001
NM_004525.3(LRP2):c.2599A>G (p.Thr867Ala) rs143822500 0.00001
NM_004525.3(LRP2):c.2688C>G (p.His896Gln) rs1306828984 0.00001
NM_004525.3(LRP2):c.2907T>G (p.Thr969=) rs775082388 0.00001
NM_004525.3(LRP2):c.2944G>A (p.Gly982Ser) rs116482338 0.00001
NM_004525.3(LRP2):c.3039C>T (p.Cys1013=) rs200245838 0.00001
NM_004525.3(LRP2):c.3212C>T (p.Ala1071Val) rs756882589 0.00001
NM_004525.3(LRP2):c.3602T>C (p.Ile1201Thr) rs767986542 0.00001
NM_004525.3(LRP2):c.3721G>T (p.Gly1241Cys) rs1187539374 0.00001
NM_004525.3(LRP2):c.4066T>A (p.Phe1356Ile) rs775393937 0.00001
NM_004525.3(LRP2):c.4270G>T (p.Asp1424Tyr) rs777093582 0.00001
NM_004525.3(LRP2):c.4804G>A (p.Gly1602Ser) rs765078256 0.00001
NM_004525.3(LRP2):c.4849T>A (p.Ser1617Thr) rs775105684 0.00001
NM_004525.3(LRP2):c.4855C>A (p.Leu1619Ile) rs766931921 0.00001
NM_004525.3(LRP2):c.4894C>T (p.Arg1632Trp) rs773659431 0.00001
NM_004525.3(LRP2):c.4920+6T>C rs748575807 0.00001
NM_004525.3(LRP2):c.4990C>T (p.Arg1664Trp) rs141693781 0.00001
NM_004525.3(LRP2):c.5429A>G (p.Asn1810Ser) rs1447688378 0.00001
NM_004525.3(LRP2):c.5701G>A (p.Ala1901Thr) rs533012078 0.00001
NM_004525.3(LRP2):c.5755G>A (p.Glu1919Lys) rs561702323 0.00001
NM_004525.3(LRP2):c.5867T>G (p.Leu1956Arg) rs756470766 0.00001
NM_004525.3(LRP2):c.6374G>A (p.Arg2125His) rs752202886 0.00001
NM_004525.3(LRP2):c.6671A>G (p.Asn2224Ser) rs957137487 0.00001
NM_004525.3(LRP2):c.6710G>A (p.Arg2237Gln) rs927460259 0.00001
NM_004525.3(LRP2):c.7247A>G (p.Asn2416Ser) rs1326475927 0.00001
NM_004525.3(LRP2):c.8020G>A (p.Glu2674Lys) rs763170196 0.00001
NM_004525.3(LRP2):c.8096G>A (p.Arg2699Gln) rs867912144 0.00001
NM_004525.3(LRP2):c.8623C>T (p.Arg2875Cys) rs1308246487 0.00001
NM_004525.3(LRP2):c.8702A>G (p.His2901Arg) rs886055083 0.00001
NM_004525.3(LRP2):c.9290T>C (p.Leu3097Pro) rs892125029 0.00001
NM_004525.3(LRP2):c.9733G>A (p.Asp3245Asn) rs759025536 0.00001
NM_004525.3(LRP2):c.10020G>C (p.Trp3340Cys) rs2105294700
NM_004525.3(LRP2):c.10202C>G (p.Thr3401Arg) rs200563635
NM_004525.3(LRP2):c.10211A>G (p.Asp3404Gly) rs146669420
NM_004525.3(LRP2):c.10792G>A (p.Glu3598Lys) rs866160148
NM_004525.3(LRP2):c.11014+4A>C rs2105281642
NM_004525.3(LRP2):c.11203C>T (p.Leu3735Phe) rs755720299
NM_004525.3(LRP2):c.11399C>G (p.Pro3800Arg) rs911625687
NM_004525.3(LRP2):c.11683C>T (p.Arg3895Cys) rs763655058
NM_004525.3(LRP2):c.1229A>G (p.His410Arg) rs1187695296
NM_004525.3(LRP2):c.12494G>A (p.Arg4165His) rs201763999
NM_004525.3(LRP2):c.12956G>A (p.Arg4319Gln) rs1685883691
NM_004525.3(LRP2):c.13433C>T (p.Thr4478Ile) rs1462115520
NM_004525.3(LRP2):c.13601A>C (p.Lys4534Thr) rs757334722
NM_004525.3(LRP2):c.13812G>C (p.Glu4604Asp) rs932886306
NM_004525.3(LRP2):c.13906T>A (p.Ser4636Thr) rs1024105423
NM_004525.3(LRP2):c.1593C>G (p.Ser531Arg) rs148996947
NM_004525.3(LRP2):c.1870G>A (p.Val624Met) rs777288693
NM_004525.3(LRP2):c.3676C>A (p.Pro1226Thr) rs2105383842
NM_004525.3(LRP2):c.3724A>G (p.Ile1242Val) rs764203713
NM_004525.3(LRP2):c.4181G>A (p.Cys1394Tyr) rs767869932
NM_004525.3(LRP2):c.4755C>A (p.Asp1585Glu) rs141871628
NM_004525.3(LRP2):c.4766G>A (p.Arg1589His) rs587780385
NM_004525.3(LRP2):c.4999C>G (p.Arg1667Gly) rs867941074
NM_004525.3(LRP2):c.5113G>C (p.Ala1705Pro) rs193082017
NM_004525.3(LRP2):c.5206G>T (p.Asp1736Tyr) rs549532662
NM_004525.3(LRP2):c.5609T>C (p.Val1870Ala) rs148768434
NM_004525.3(LRP2):c.5609T>G (p.Val1870Gly) rs148768434
NM_004525.3(LRP2):c.5719G>A (p.Gly1907Ser) rs753578958
NM_004525.3(LRP2):c.573C>T (p.Gly191=) rs1254126085
NM_004525.3(LRP2):c.617A>T (p.Asn206Ile) rs772314601
NM_004525.3(LRP2):c.6356C>T (p.Ala2119Val) rs2105337164
NM_004525.3(LRP2):c.6502G>A (p.Glu2168Lys) rs1014074124
NM_004525.3(LRP2):c.6784C>T (p.Arg2262Cys) rs751639325
NM_004525.3(LRP2):c.6785G>T (p.Arg2262Leu) rs201740125
NM_004525.3(LRP2):c.7208T>G (p.Leu2403Trp) rs1209440404
NM_004525.3(LRP2):c.7227C>A (p.Ser2409Arg) rs963561778
NM_004525.3(LRP2):c.7894A>C (p.Asn2632His) rs17848169
NM_004525.3(LRP2):c.7966G>A (p.Glu2656Lys) rs201403741
NM_004525.3(LRP2):c.8015G>A (p.Gly2672Asp) rs1442964514
NM_004525.3(LRP2):c.8123C>T (p.Ser2708Phe) rs765246382
NM_004525.3(LRP2):c.8219C>T (p.Thr2740Ile) rs1688214550
NM_004525.3(LRP2):c.8352G>A (p.Thr2784=) rs200194530
NM_004525.3(LRP2):c.8892G>T (p.Arg2964Ser) rs149148763
NM_004525.3(LRP2):c.974C>T (p.Pro325Leu) rs79877455
NM_004525.3(LRP2):c.9931T>C (p.Cys3311Arg) rs2105295973

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