ClinVar Miner

List of variants reported as likely benign for Donnai-Barrow syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 212
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HGVS dbSNP gnomAD frequency
NM_004525.3(LRP2):c.79+15A>G rs1559013 0.98894
NM_004525.3(LRP2):c.13134C>G (p.Pro4378=) rs73970129 0.01063
NM_004525.2(LRP2):c.-147G>C rs114880772 0.01047
NM_004525.3(LRP2):c.5293G>A (p.Val1765Met) rs116456291 0.01031
NM_004525.3(LRP2):c.9033-8T>C rs140148483 0.01021
NM_004525.3(LRP2):c.11346C>T (p.Asn3782=) rs7598640 0.00939
NM_004525.3(LRP2):c.10403C>T (p.Pro3468Leu) rs143367996 0.00734
NM_004525.3(LRP2):c.*407T>A rs145253443 0.00691
NM_004525.3(LRP2):c.923-6G>A rs144147038 0.00611
NM_004525.3(LRP2):c.11092G>A (p.Val3698Met) rs34355135 0.00560
NM_004525.3(LRP2):c.8892G>A (p.Arg2964=) rs149148763 0.00557
NM_004525.3(LRP2):c.3659C>T (p.Ala1220Val) rs144723964 0.00467
NM_004525.3(LRP2):c.7917A>C (p.Gly2639=) rs144126440 0.00441
NM_004525.3(LRP2):c.13620+14C>G rs142018904 0.00384
NM_004525.3(LRP2):c.149C>G (p.Thr50Ser) rs114460450 0.00342
NM_004525.3(LRP2):c.403G>A (p.Asp135Asn) rs142594441 0.00340
NM_004525.3(LRP2):c.*444G>A rs114836292 0.00337
NM_004525.3(LRP2):c.6967C>T (p.Leu2323=) rs149367019 0.00326
NM_004525.3(LRP2):c.2456G>A (p.Arg819His) rs142080405 0.00306
NM_004525.3(LRP2):c.10937G>A (p.Arg3646His) rs142549310 0.00298
NM_004525.3(LRP2):c.5538+10C>T rs115659204 0.00296
NM_004525.3(LRP2):c.1869C>T (p.Ala623=) rs148468966 0.00288
NM_004525.3(LRP2):c.92C>T (p.Ala31Val) rs144829356 0.00280
NM_004525.3(LRP2):c.-5C>T rs373286009 0.00255
NM_004525.3(LRP2):c.1973A>G (p.Tyr658Cys) rs111360923 0.00248
NM_004525.3(LRP2):c.2079C>T (p.Phe693=) rs145709922 0.00246
NM_004525.3(LRP2):c.5390A>G (p.Asn1797Ser) rs138070797 0.00234
NM_004525.3(LRP2):c.*18G>A rs141693983 0.00226
NM_004525.3(LRP2):c.769+9G>A rs148452352 0.00225
NM_004525.3(LRP2):c.11663G>A (p.Arg3888His) rs77686710 0.00218
NM_004525.3(LRP2):c.8831-13G>A rs144717648 0.00218
NM_004525.3(LRP2):c.12379C>A (p.Arg4127Ser) rs148356370 0.00217
NM_004525.3(LRP2):c.10170-15T>G rs144579935 0.00205
NM_004525.3(LRP2):c.13685T>C (p.Val4562Ala) rs142245618 0.00201
NM_004525.3(LRP2):c.6850A>G (p.Thr2284Ala) rs35413340 0.00196
NM_004525.3(LRP2):c.12380G>A (p.Arg4127His) rs142934522 0.00195
NM_004525.3(LRP2):c.2513+14T>C rs201785482 0.00195
NM_004525.3(LRP2):c.10030G>A (p.Ala3344Thr) rs137983840 0.00185
NM_004525.3(LRP2):c.10233C>T (p.Phe3411=) rs139363553 0.00183
NM_004525.3(LRP2):c.3122A>G (p.Asn1041Ser) rs143028579 0.00170
NM_004525.3(LRP2):c.1976-5T>A rs373234680 0.00167
NM_004525.3(LRP2):c.4351G>T (p.Val1451Phe) rs146289506 0.00164
NM_004525.3(LRP2):c.6954C>T (p.Asp2318=) rs34223099 0.00155
NM_004525.3(LRP2):c.9147C>T (p.Phe3049=) rs146115458 0.00154
NM_004525.3(LRP2):c.*530C>T rs115478975 0.00153
NM_004525.3(LRP2):c.9914G>A (p.Arg3305His) rs3213760 0.00150
NM_004525.3(LRP2):c.3081C>T (p.Gly1027=) rs138156358 0.00147
NM_004525.3(LRP2):c.2908+18G>A rs182125868 0.00136
NM_004525.3(LRP2):c.12287T>C (p.Ile4096Thr) rs137922929 0.00129
NM_004525.3(LRP2):c.5209C>T (p.Leu1737Phe) rs149469954 0.00126
NM_004525.3(LRP2):c.13921A>T (p.Thr4641Ser) rs79179577 0.00123
NM_004525.3(LRP2):c.170C>T (p.Ala57Val) rs115350461 0.00111
NM_004525.3(LRP2):c.391A>G (p.Arg131Gly) rs34592807 0.00109
NM_004525.3(LRP2):c.2603C>G (p.Thr868Ser) rs150752263 0.00100
NM_004525.3(LRP2):c.6176C>T (p.Ser2059Phe) rs148299415 0.00098
NM_004525.3(LRP2):c.4831C>T (p.Leu1611=) rs151079411 0.00091
NM_004525.3(LRP2):c.1042+19C>T rs183348926 0.00088
NM_004525.3(LRP2):c.2909-19C>T rs144286272 0.00087
NM_004525.3(LRP2):c.987G>A (p.Ala329=) rs141751667 0.00084
NM_004525.3(LRP2):c.8070G>A (p.Lys2690=) rs144284604 0.00078
NM_004525.3(LRP2):c.3311A>G (p.His1104Arg) rs144906000 0.00073
NM_004525.3(LRP2):c.9617G>A (p.Arg3206His) rs148251117 0.00073
NM_004525.3(LRP2):c.1176C>T (p.Gly392=) rs369145798 0.00070
NM_004525.3(LRP2):c.4803C>T (p.Cys1601=) rs141068435 0.00065
NM_004525.3(LRP2):c.7926T>G (p.Thr2642=) rs138903794 0.00063
NM_004525.3(LRP2):c.11264-14C>G rs377424162 0.00062
NM_004525.3(LRP2):c.891T>C (p.Asp297=) rs112343092 0.00062
NM_004525.3(LRP2):c.10165A>G (p.Ile3389Val) rs140272085 0.00055
NM_004525.3(LRP2):c.13610A>C (p.Gln4537Pro) rs188918037 0.00049
NM_004525.3(LRP2):c.7866C>T (p.Asp2622=) rs139514301 0.00047
NM_004525.3(LRP2):c.13728+13G>A rs200492791 0.00046
NM_004525.3(LRP2):c.6256A>T (p.Thr2086Ser) rs146149181 0.00045
NM_004525.3(LRP2):c.8901C>G (p.Pro2967=) rs145179638 0.00045
NM_004525.3(LRP2):c.2320+9G>A rs368933798 0.00044
NM_004525.3(LRP2):c.6553C>T (p.Leu2185Phe) rs143884041 0.00043
NM_004525.3(LRP2):c.12421G>A (p.Val4141Ile) rs150382715 0.00041
NM_004525.3(LRP2):c.6048C>T (p.Ala2016=) rs144449508 0.00040
NM_004525.3(LRP2):c.9363C>T (p.Gly3121=) rs146783211 0.00039
NM_004525.3(LRP2):c.11322G>A (p.Ser3774=) rs141727314 0.00034
NM_004525.3(LRP2):c.2511C>T (p.Ala837=) rs375313914 0.00034
NM_004525.3(LRP2):c.9069C>T (p.Asp3023=) rs148612649 0.00034
NM_004525.3(LRP2):c.1731G>A (p.Arg577=) rs142698246 0.00031
NM_004525.3(LRP2):c.6057A>G (p.Ser2019=) rs150970767 0.00031
NM_004525.3(LRP2):c.3551-9C>A rs373882047 0.00030
NM_004525.3(LRP2):c.80-13T>C rs201879092 0.00029
NM_004525.3(LRP2):c.*1118T>G rs575232276 0.00028
NM_004525.3(LRP2):c.*158T>C rs183814447 0.00028
NM_004525.3(LRP2):c.*297A>G rs192934188 0.00028
NM_004525.3(LRP2):c.8505T>C (p.Cys2835=) rs140925226 0.00027
NM_004525.3(LRP2):c.13108+12G>A rs370126040 0.00024
NM_004525.3(LRP2):c.3128A>G (p.Tyr1043Cys) rs201299366 0.00021
NM_004525.3(LRP2):c.8847G>A (p.Ser2949=) rs181346149 0.00021
NM_004525.3(LRP2):c.10768+12C>T rs17848185 0.00020
NM_004525.3(LRP2):c.11478G>A (p.Ala3826=) rs150464677 0.00019
NM_004525.3(LRP2):c.12360C>A (p.Ile4120=) rs150906896 0.00019
NM_004525.3(LRP2):c.8073C>T (p.His2691=) rs146772976 0.00018
NM_004525.3(LRP2):c.828G>A (p.Ser276=) rs146048301 0.00017
NM_004525.3(LRP2):c.12072C>T (p.Thr4024=) rs140444992 0.00016
NM_004525.3(LRP2):c.12687T>C (p.Gly4229=) rs140195786 0.00016
NM_004525.3(LRP2):c.8005+14C>A rs374471253 0.00016
NM_004525.3(LRP2):c.8352G>C (p.Thr2784=) rs200194530 0.00016
NM_004525.3(LRP2):c.8409A>G (p.Val2803=) rs201263376 0.00016
NM_004525.3(LRP2):c.12461+20C>T rs368683982 0.00015
NM_004525.3(LRP2):c.6040+9T>C rs185280219 0.00015
NM_004525.3(LRP2):c.7743G>T (p.Thr2581=) rs140698184 0.00015
NM_004525.3(LRP2):c.7296A>G (p.Arg2432=) rs370035430 0.00014
NM_004525.3(LRP2):c.12296-7T>A rs200755164 0.00013
NM_004525.3(LRP2):c.12756C>T (p.Asp4252=) rs201793817 0.00012
NM_004525.3(LRP2):c.4691+16A>T rs201303681 0.00012
NM_004525.3(LRP2):c.9177C>T (p.Asp3059=) rs763193608 0.00012
NM_004525.3(LRP2):c.975G>A (p.Pro325=) rs368492082 0.00012
NM_004525.3(LRP2):c.12988+18T>C rs201970419 0.00011
NM_004525.3(LRP2):c.13359C>T (p.Ser4453=) rs202161925 0.00011
NM_004525.3(LRP2):c.1342-13G>A rs372705473 0.00011
NM_004525.3(LRP2):c.5370A>G (p.Gln1790=) rs201155152 0.00011
NM_004525.3(LRP2):c.5553C>T (p.His1851=) rs369998522 0.00011
NM_004525.3(LRP2):c.8277C>T (p.Arg2759=) rs546544412 0.00011
NM_004525.3(LRP2):c.4045+20T>C rs202173572 0.00010
NM_004525.3(LRP2):c.8112C>A (p.Ser2704=) rs148473513 0.00010
NM_004525.3(LRP2):c.9066C>T (p.Ser3022=) rs374380173 0.00010
NM_004525.3(LRP2):c.*739C>G rs193064620 0.00009
NM_004525.3(LRP2):c.10906C>T (p.Arg3636Trp) rs747833963 0.00009
NM_004525.3(LRP2):c.12296-4G>A rs375166826 0.00009
NM_004525.3(LRP2):c.12989-10C>T rs186870588 0.00009
NM_004525.3(LRP2):c.3191-17G>A rs763192172 0.00009
NM_004525.3(LRP2):c.4294+20G>A rs377152498 0.00009
NM_004525.3(LRP2):c.4755C>T (p.Asp1585=) rs141871628 0.00009
NM_004525.3(LRP2):c.7878G>A (p.Gln2626=) rs199593393 0.00009
NM_004525.3(LRP2):c.10413C>T (p.Thr3471=) rs781066641 0.00008
NM_004525.3(LRP2):c.13519-18T>C rs1031924195 0.00008
NM_004525.3(LRP2):c.3333C>T (p.Asp1111=) rs372322747 0.00008
NM_004525.3(LRP2):c.909C>T (p.Thr303=) rs375394006 0.00008
NM_004525.3(LRP2):c.1425C>T (p.Asp475=) rs186484839 0.00007
NM_004525.3(LRP2):c.10314A>G (p.Gly3438=) rs368626587 0.00006
NM_004525.3(LRP2):c.13728+12C>T rs368463648 0.00006
NM_004525.3(LRP2):c.2886G>C (p.Ser962=) rs138299719 0.00006
NM_004525.3(LRP2):c.3123T>C (p.Asn1041=) rs1028631475 0.00006
NM_004525.3(LRP2):c.4524C>T (p.Ile1508=) rs376111498 0.00006
NM_004525.3(LRP2):c.630C>T (p.Asp210=) rs368336310 0.00006
NM_004525.3(LRP2):c.1043-19T>C rs374755698 0.00005
NM_004525.3(LRP2):c.3495G>A (p.Ser1165=) rs186494101 0.00005
NM_004525.3(LRP2):c.5367G>A (p.Glu1789=) rs528249827 0.00005
NM_004525.3(LRP2):c.8228C>T (p.Pro2743Leu) rs545645633 0.00005
NM_004525.3(LRP2):c.9312C>T (p.Ser3104=) rs538919316 0.00005
NM_004525.3(LRP2):c.9981C>G (p.Ala3327=) rs149558767 0.00005
NM_004525.3(LRP2):c.10572-13G>A rs372963344 0.00004
NM_004525.3(LRP2):c.11635+17C>T rs199625884 0.00004
NM_004525.3(LRP2):c.11850C>T (p.Ala3950=) rs765289317 0.00004
NM_004525.3(LRP2):c.13268-14A>G rs199622240 0.00004
NM_004525.3(LRP2):c.13305C>T (p.Val4435=) rs375801132 0.00004
NM_004525.3(LRP2):c.3312C>T (p.His1104=) rs188152163 0.00004
NM_004525.3(LRP2):c.378G>A (p.Arg126=) rs753521481 0.00004
NM_004525.3(LRP2):c.770-12T>C rs138572086 0.00004
NM_004525.3(LRP2):c.13002C>T (p.Cys4334=) rs774133574 0.00003
NM_004525.3(LRP2):c.2076A>G (p.Thr692=) rs772992405 0.00003
NM_004525.3(LRP2):c.2117-20C>T rs190077478 0.00003
NM_004525.3(LRP2):c.5535C>A (p.Ile1845=) rs772030872 0.00003
NM_004525.3(LRP2):c.6281-7C>A rs200673871 0.00003
NM_004525.3(LRP2):c.8578+19C>T rs184250625 0.00003
NM_004525.3(LRP2):c.10803C>T (p.Cys3601=) rs370876114 0.00002
NM_004525.3(LRP2):c.39C>T (p.Leu13=) rs529649802 0.00002
NM_004525.3(LRP2):c.427+18C>T rs775148958 0.00002
NM_004525.3(LRP2):c.8831-16C>T rs775327679 0.00002
NM_004525.3(LRP2):c.9876T>C (p.Asp3292=) rs749452281 0.00002
NM_004525.3(LRP2):c.1042+20G>A rs533964308 0.00001
NM_004525.3(LRP2):c.11244C>T (p.Asn3748=) rs542010522 0.00001
NM_004525.3(LRP2):c.11451C>T (p.Cys3817=) rs745376364 0.00001
NM_004525.3(LRP2):c.12330T>A (p.Ser4110=) rs751512062 0.00001
NM_004525.3(LRP2):c.13363T>C (p.Leu4455=) rs748926618 0.00001
NM_004525.3(LRP2):c.13410C>T (p.Pro4470=) rs1419052115 0.00001
NM_004525.3(LRP2):c.1827A>G (p.Leu609=) rs186137585 0.00001
NM_004525.3(LRP2):c.3430+10G>A rs375941769 0.00001
NM_004525.3(LRP2):c.3501C>T (p.Val1167=) rs764906118 0.00001
NM_004525.3(LRP2):c.7515C>T (p.Arg2505=) rs773316402 0.00001
NM_004525.3(LRP2):c.80-10A>G rs769089398 0.00001
NM_004525.3(LRP2):c.876C>T (p.Cys292=) rs201503356 0.00001
NM_004525.3(LRP2):c.9342C>T (p.Cys3114=) rs199803029 0.00001
NM_004525.3(LRP2):c.9891T>C (p.Ser3297=) rs1486598660 0.00001
NM_004525.3(LRP2):c.*1381GATG[6] rs3083261
NM_004525.3(LRP2):c.10155C>T (p.His3385=) rs765266983
NM_004525.3(LRP2):c.10571+5G>A
NM_004525.3(LRP2):c.11498-13del rs143342962
NM_004525.3(LRP2):c.11568G>A (p.Pro3856=) rs745949029
NM_004525.3(LRP2):c.1186A>G (p.Ile396Val) rs527397264
NM_004525.3(LRP2):c.11985C>T (p.Phe3995=) rs138867955
NM_004525.3(LRP2):c.12125G>A (p.Arg4042His) rs199874294
NM_004525.3(LRP2):c.13044A>T (p.Gly4348=) rs143254052
NM_004525.3(LRP2):c.13137C>G (p.Pro4379=) rs140160600
NM_004525.3(LRP2):c.13218C>T (p.Thr4406=) rs780040199
NM_004525.3(LRP2):c.13519-40CT[7] rs138614485
NM_004525.3(LRP2):c.13519-40CT[8] rs138614485
NM_004525.3(LRP2):c.13519-40CT[9] rs138614485
NM_004525.3(LRP2):c.13620+16G>A rs2105334637
NM_004525.3(LRP2):c.13830T>G (p.Ala4610=) rs2105322142
NM_004525.3(LRP2):c.1593C>T (p.Ser531=) rs148996947
NM_004525.3(LRP2):c.1975+19G>A rs2105443566
NM_004525.3(LRP2):c.246C>T (p.Pro82=) rs1684836154
NM_004525.3(LRP2):c.3259G>A (p.Asp1087Asn)
NM_004525.3(LRP2):c.3932G>A (p.Arg1311His) rs140748929
NM_004525.3(LRP2):c.428-14_428-8del rs370823033
NM_004525.3(LRP2):c.428-18_428-8del rs370823033
NM_004525.3(LRP2):c.538+19A>T rs2105472858
NM_004525.3(LRP2):c.5648+7A>C rs775694684
NM_004525.3(LRP2):c.6267G>A (p.Pro2089=) rs2228169
NM_004525.3(LRP2):c.652+14T>A rs116358988
NM_004525.3(LRP2):c.652+14T>G rs116358988
NM_004525.3(LRP2):c.770-5C>A rs180797349
NM_004525.3(LRP2):c.7716-13del rs754348745
NM_004525.3(LRP2):c.7716-13dup rs754348745
NM_004525.3(LRP2):c.80-14_80-11del rs777197536
NM_004525.3(LRP2):c.8699-8C>T rs145301652
NM_004525.3(LRP2):c.923-19del rs535311793

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