ClinVar Miner

List of variants reported as likely benign for Donnai-Barrow syndrome by Fulgent Genetics, Fulgent Genetics

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ClinVar version:
Total variants: 127
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HGVS dbSNP gnomAD frequency
NM_004525.3(LRP2):c.79+15A>G rs1559013 0.98894
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.11092G>A (p.Val3698Met) rs34355135 0.00560
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.2456G>A (p.Arg819His) rs142080405 0.00306
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.769+9G>A rs148452352 0.00225
NM_004525.3(LRP2):c.8831-13G>A rs144717648 0.00218
NM_004525.3(LRP2):c.10030G>A (p.Ala3344Thr) rs137983840 0.00185
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.6954C>T (p.Asp2318=) rs34223099 0.00155
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.1042+19C>T rs183348926 0.00088
NM_004525.3(LRP2):c.2909-19C>T rs144286272 0.00087
NM_004525.3(LRP2):c.3311A>G (p.His1104Arg) rs144906000 0.00073
NM_004525.3(LRP2):c.7926T>G (p.Thr2642=) rs138903794 0.00063
NM_004525.3(LRP2):c.891T>C (p.Asp297=) rs112343092 0.00062
NM_004525.3(LRP2):c.13728+13G>A rs200492791 0.00046
NM_004525.3(LRP2):c.6048C>T (p.Ala2016=) rs144449508 0.00040
NM_004525.3(LRP2):c.9069C>T (p.Asp3023=) rs148612649 0.00034
NM_004525.3(LRP2):c.6057A>G (p.Ser2019=) rs150970767 0.00031
NM_004525.3(LRP2):c.80-13T>C rs201879092 0.00029
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.8847G>A (p.Ser2949=) rs181346149 0.00021
NM_004525.3(LRP2):c.10768+12C>T rs17848185 0.00020
NM_004525.3(LRP2):c.12360C>A (p.Ile4120=) rs150906896 0.00019
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.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.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.1342-13G>A rs372705473 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.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.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.1043-19T>C rs374755698 0.00005
NM_004525.3(LRP2):c.5367G>A (p.Glu1789=) rs528249827 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.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.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.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.9891T>C (p.Ser3297=) rs1486598660 0.00001
NM_004525.3(LRP2):c.10155C>T (p.His3385=) rs765266983
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.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.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.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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