ClinVar Miner

List of variants reported as likely benign for Aspartylglucosaminuria by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 233
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591 0.00188
NM_000027.4(AGA):c.762C>T (p.Ala254=) rs145465919 0.00095
NM_000027.4(AGA):c.885G>A (p.Lys295=) rs34019119 0.00037
NM_000027.4(AGA):c.979A>G (p.Ser327Gly) rs369035792 0.00029
NM_000027.4(AGA):c.286A>T (p.Thr96Ser) rs184672077 0.00019
NM_000027.4(AGA):c.923A>G (p.Asn308Ser) rs371221470 0.00014
NM_000027.4(AGA):c.941-5C>T rs377622082 0.00014
NM_000027.4(AGA):c.698+20C>T rs753356588 0.00012
NM_000027.4(AGA):c.150A>T (p.Gly50=) rs143210437 0.00007
NM_000027.4(AGA):c.745G>A (p.Asp249Asn) rs574642737 0.00007
NM_000027.4(AGA):c.105C>G (p.Pro35=) rs199757656 0.00006
NM_000027.4(AGA):c.127+13G>A rs376430029 0.00006
NM_000027.4(AGA):c.623-13T>G rs778434616 0.00006
NM_000027.4(AGA):c.282-6T>C rs749661341 0.00005
NM_000027.4(AGA):c.75C>T (p.Ser25=) rs146683705 0.00005
NM_000027.4(AGA):c.128-18T>C rs367922948 0.00004
NM_000027.4(AGA):c.24T>C (p.Pro8=) rs34413111 0.00004
NM_000027.4(AGA):c.281+12G>A rs754261269 0.00004
NM_000027.4(AGA):c.645A>G (p.Thr215=) rs201441868 0.00004
NM_000027.4(AGA):c.127+16C>T rs745840548 0.00003
NM_000027.4(AGA):c.696T>C (p.His232=) rs1211143576 0.00003
NM_000027.4(AGA):c.806+20G>A rs373963391 0.00003
NM_000027.4(AGA):c.129G>A (p.Ala43=) rs780842670 0.00002
NM_000027.4(AGA):c.210C>T (p.Asp70=) rs762870187 0.00002
NM_000027.4(AGA):c.27G>T (p.Val9=) rs764924616 0.00002
NM_000027.4(AGA):c.698+10T>C rs756908895 0.00002
NM_000027.4(AGA):c.738T>C (p.Tyr246=) rs758804988 0.00002
NM_000027.4(AGA):c.771T>G (p.Thr257=) rs1736734050 0.00002
NM_000027.4(AGA):c.109A>G (p.Lys37Glu) rs766776902 0.00001
NM_000027.4(AGA):c.127+11G>A rs976811435 0.00001
NM_000027.4(AGA):c.128-14G>A rs769452319 0.00001
NM_000027.4(AGA):c.135G>A (p.Arg45=) rs1241109215 0.00001
NM_000027.4(AGA):c.153C>T (p.Gly51=) rs1404115808 0.00001
NM_000027.4(AGA):c.160C>T (p.Leu54=) rs992715539 0.00001
NM_000027.4(AGA):c.171G>A (p.Val57=) rs750795098 0.00001
NM_000027.4(AGA):c.177C>T (p.Ser59=) rs757480668 0.00001
NM_000027.4(AGA):c.204G>A (p.Gln68=) rs373209495 0.00001
NM_000027.4(AGA):c.216T>C (p.Ser72=) rs765186052 0.00001
NM_000027.4(AGA):c.219A>G (p.Val73=) rs999695070 0.00001
NM_000027.4(AGA):c.281+18G>A rs376346895 0.00001
NM_000027.4(AGA):c.33C>T (p.Leu11=) rs763702713 0.00001
NM_000027.4(AGA):c.394+10T>G rs781210455 0.00001
NM_000027.4(AGA):c.394+14T>C rs1736925120 0.00001
NM_000027.4(AGA):c.394+18C>G rs201586120 0.00001
NM_000027.4(AGA):c.395-11C>G rs919288111 0.00001
NM_000027.4(AGA):c.395-14T>A rs1001103607 0.00001
NM_000027.4(AGA):c.395-4C>T rs530298258 0.00001
NM_000027.4(AGA):c.402A>G (p.Thr134=) rs770449168 0.00001
NM_000027.4(AGA):c.411A>G (p.Gln137=) rs1467200206 0.00001
NM_000027.4(AGA):c.507+11A>T rs1426500064 0.00001
NM_000027.4(AGA):c.507+20A>T rs1422321468 0.00001
NM_000027.4(AGA):c.507+7A>G rs2111017976 0.00001
NM_000027.4(AGA):c.507+8C>T rs1371366618 0.00001
NM_000027.4(AGA):c.508-18C>T rs762450535 0.00001
NM_000027.4(AGA):c.570G>A (p.Gln190=) rs111633694 0.00001
NM_000027.4(AGA):c.600T>C (p.Asp200=) rs777128985 0.00001
NM_000027.4(AGA):c.623-18T>G rs2111013629 0.00001
NM_000027.4(AGA):c.623-4C>G rs888352005 0.00001
NM_000027.4(AGA):c.623-6T>C rs753309242 0.00001
NM_000027.4(AGA):c.636C>T (p.Ile212=) rs1384548395 0.00001
NM_000027.4(AGA):c.657T>C (p.Ala219=) rs886059261 0.00001
NM_000027.4(AGA):c.698+11C>A rs1229222068 0.00001
NM_000027.4(AGA):c.699-5C>T rs1324665450 0.00001
NM_000027.4(AGA):c.705A>G (p.Val235=) rs150175428 0.00001
NM_000027.4(AGA):c.806+14G>C rs750823422 0.00001
NM_000027.4(AGA):c.806+7C>A rs1736729836 0.00001
NM_000027.4(AGA):c.807-11G>C rs780375973 0.00001
NM_000027.4(AGA):c.807-15C>T rs746561546 0.00001
NM_000027.4(AGA):c.807-17A>C rs776282100 0.00001
NM_000027.4(AGA):c.807-8T>A rs1736690471 0.00001
NM_000027.4(AGA):c.837A>C (p.Gly279=) rs368840965 0.00001
NM_000027.4(AGA):c.84C>T (p.Pro28=) rs182442304 0.00001
NM_000027.4(AGA):c.852A>T (p.Ile284=) rs540397394 0.00001
NM_000027.4(AGA):c.894A>G (p.Pro298=) rs760082787 0.00001
NM_000027.4(AGA):c.90C>G (p.Val30=) rs371130120 0.00001
NM_000027.4(AGA):c.90C>T (p.Val30=) rs371130120 0.00001
NM_000027.4(AGA):c.918T>C (p.Cys306=) rs749698472 0.00001
NM_000027.4(AGA):c.93C>T (p.Val31=) rs922841572 0.00001
NM_000027.4(AGA):c.940+20T>C rs1458553941 0.00001
NM_000027.4(AGA):c.941-8G>T rs1458091976 0.00001
NM_000027.4(AGA):c.960T>G (p.Leu320=) rs1736644281 0.00001
NM_000027.4(AGA):c.999C>T (p.Ser333=) rs1479579564 0.00001
NM_000027.4(AGA):c.1017T>G (p.Thr339=) rs2111004518
NM_000027.4(AGA):c.1038C>A (p.Ile346=) rs2476840941
NM_000027.4(AGA):c.105C>T (p.Pro35=) rs199757656
NM_000027.4(AGA):c.120C>A (p.Thr40=) rs1560952259
NM_000027.4(AGA):c.120C>T (p.Thr40=) rs1560952259
NM_000027.4(AGA):c.127+10G>A
NM_000027.4(AGA):c.127+12C>T rs2476886334
NM_000027.4(AGA):c.127+14G>A rs772131486
NM_000027.4(AGA):c.127+15C>T rs2476886301
NM_000027.4(AGA):c.127+16C>G rs745840548
NM_000027.4(AGA):c.127+8T>C rs1227443826
NM_000027.4(AGA):c.127+9T>C rs1453929137
NM_000027.4(AGA):c.128-14G>C rs769452319
NM_000027.4(AGA):c.128-18T>A rs367922948
NM_000027.4(AGA):c.128-19A>G rs2476875165
NM_000027.4(AGA):c.128-7dup rs1736960600
NM_000027.4(AGA):c.153C>A (p.Gly51=) rs1404115808
NM_000027.4(AGA):c.159C>G (p.Ala53=) rs751071150
NM_000027.4(AGA):c.15G>A (p.Ser5=) rs777972773
NM_000027.4(AGA):c.15G>T (p.Ser5=) rs777972773
NM_000027.4(AGA):c.165T>C (p.Asp55=) rs1736958651
NM_000027.4(AGA):c.168A>C (p.Ala56=) rs2111021852
NM_000027.4(AGA):c.168A>G (p.Ala56=) rs2111021852
NM_000027.4(AGA):c.186C>T (p.Ala62=)
NM_000027.4(AGA):c.18C>T (p.Asn6=) rs1579047707
NM_000027.4(AGA):c.19T>C (p.Leu7=) rs2111028551
NM_000027.4(AGA):c.222C>T (p.Gly74=) rs2476874329
NM_000027.4(AGA):c.240T>C (p.Asp80=) rs2476874252
NM_000027.4(AGA):c.24T>G (p.Pro8=) rs34413111
NM_000027.4(AGA):c.259C>T (p.Leu87=) rs2476874172
NM_000027.4(AGA):c.27G>C (p.Val9=) rs764924616
NM_000027.4(AGA):c.281+11C>T rs757523971
NM_000027.4(AGA):c.281+15C>G rs1040247749
NM_000027.4(AGA):c.281+18G>T rs376346895
NM_000027.4(AGA):c.281+8C>T rs2111021417
NM_000027.4(AGA):c.281+9A>G rs2111021413
NM_000027.4(AGA):c.282-10T>C rs2111020138
NM_000027.4(AGA):c.282-12A>G rs978212728
NM_000027.4(AGA):c.282-17A>T rs757798390
NM_000027.4(AGA):c.282-19G>A rs779223854
NM_000027.4(AGA):c.282-9T>G rs2111020136
NM_000027.4(AGA):c.306A>T (p.Val102=) rs2476871413
NM_000027.4(AGA):c.319C>A (p.Arg107=) rs765070743
NM_000027.4(AGA):c.330T>C (p.Asn110=) rs2476871276
NM_000027.4(AGA):c.348G>A (p.Arg116=) rs2111019818
NM_000027.4(AGA):c.394+13C>T rs2476870779
NM_000027.4(AGA):c.394+18C>T rs201586120
NM_000027.4(AGA):c.394+20_394+21del rs1736924811
NM_000027.4(AGA):c.394+7_394+10del rs761207366
NM_000027.4(AGA):c.394+8T>C
NM_000027.4(AGA):c.394+9T>C rs2476870815
NM_000027.4(AGA):c.395-19C>G
NM_000027.4(AGA):c.395-4C>G rs530298258
NM_000027.4(AGA):c.395-5T>C rs2476867952
NM_000027.4(AGA):c.395-6C>A rs2476867958
NM_000027.4(AGA):c.395-7T>C rs2111018312
NM_000027.4(AGA):c.395-9A>T rs2476867987
NM_000027.4(AGA):c.402A>C (p.Thr134=) rs770449168
NM_000027.4(AGA):c.420G>T (p.Gly140=) rs1579044062
NM_000027.4(AGA):c.426C>T (p.Ile142=) rs2476867767
NM_000027.4(AGA):c.432A>G (p.Glu144=) rs2111018169
NM_000027.4(AGA):c.435C>T (p.Asp145=) rs199682344
NM_000027.4(AGA):c.43C>T (p.Leu15=) rs149921310
NM_000027.4(AGA):c.453T>C (p.Ser151=) rs2476867607
NM_000027.4(AGA):c.45G>T (p.Leu15=) rs1737063857
NM_000027.4(AGA):c.471T>C (p.Asp157=) rs1239818824
NM_000027.4(AGA):c.489C>T (p.Cys163=) rs2476867423
NM_000027.4(AGA):c.48C>A (p.Leu16=) rs749548544
NM_000027.4(AGA):c.48C>T (p.Leu16=) rs749548544
NM_000027.4(AGA):c.501T>C (p.Tyr167=) rs2476867372
NM_000027.4(AGA):c.507+10C>T rs1190000409
NM_000027.4(AGA):c.507+16del
NM_000027.4(AGA):c.507+19T>G
NM_000027.4(AGA):c.507+9A>T rs2476867271
NM_000027.4(AGA):c.508-14A>C rs2476863224
NM_000027.4(AGA):c.508-16T>A rs2476863239
NM_000027.4(AGA):c.508-16T>G rs2476863239
NM_000027.4(AGA):c.508-18C>G rs762450535
NM_000027.4(AGA):c.508-7T>C rs2476863192
NM_000027.4(AGA):c.510T>C (p.Asn170=) rs1736864324
NM_000027.4(AGA):c.528A>G (p.Ser176=) rs2476862971
NM_000027.4(AGA):c.534C>T (p.Tyr178=) rs2476862919
NM_000027.4(AGA):c.537C>T (p.Cys179=) rs748171793
NM_000027.4(AGA):c.540A>C (p.Gly180=) rs2476862824
NM_000027.4(AGA):c.543C>A (p.Pro181=) rs1211481130
NM_000027.4(AGA):c.549A>G (p.Lys183=) rs2111015751
NM_000027.4(AGA):c.552A>C (p.Pro184=) rs751337443
NM_000027.4(AGA):c.552A>G (p.Pro184=) rs751337443
NM_000027.4(AGA):c.57C>G (p.Ala19=) rs1737062444
NM_000027.4(AGA):c.57C>T (p.Ala19=) rs1737062444
NM_000027.4(AGA):c.582C>A (p.Ile194=) rs2476862550
NM_000027.4(AGA):c.585T>C (p.His195=) rs1736860088
NM_000027.4(AGA):c.58C>T (p.Leu20=) rs758423275
NM_000027.4(AGA):c.622+9_622+15dup rs768541259
NM_000027.4(AGA):c.623-17T>C rs750039624
NM_000027.4(AGA):c.623-9A>C rs1388029418
NM_000027.4(AGA):c.624C>T (p.Gly208=) rs1249259830
NM_000027.4(AGA):c.63G>A (p.Val21=) rs1737061654
NM_000027.4(AGA):c.66C>T (p.Arg22=) rs1189877746
NM_000027.4(AGA):c.687C>T (p.Phe229=) rs745689169
NM_000027.4(AGA):c.698+13A>G rs1165106900
NM_000027.4(AGA):c.698+14A>G rs1367503702
NM_000027.4(AGA):c.698+19A>C rs2476857794
NM_000027.4(AGA):c.699-11C>A rs748949544
NM_000027.4(AGA):c.699-11C>T rs748949544
NM_000027.4(AGA):c.699-12A>G rs1222852117
NM_000027.4(AGA):c.699-17T>C rs2476850725
NM_000027.4(AGA):c.699-9C>G rs2476850671
NM_000027.4(AGA):c.699-9C>T rs2476850671
NM_000027.4(AGA):c.708A>G (p.Gly236=) rs2111009301
NM_000027.4(AGA):c.711C>T (p.Asp237=) rs2476850537
NM_000027.4(AGA):c.723T>G (p.Pro241=) rs974322850
NM_000027.4(AGA):c.72C>T (p.Ser24=) rs2476886749
NM_000027.4(AGA):c.741T>C (p.Ala247=) rs2111009204
NM_000027.4(AGA):c.750T>C (p.Thr250=) rs2111009153
NM_000027.4(AGA):c.756G>A (p.Gly252=) rs2111009133
NM_000027.4(AGA):c.756G>T (p.Gly252=) rs2111009133
NM_000027.4(AGA):c.774G>C (p.Gly258=) rs2476850124
NM_000027.4(AGA):c.780T>C (p.Gly260=) rs1579040275
NM_000027.4(AGA):c.787T>C (p.Leu263=) rs769488537
NM_000027.4(AGA):c.789G>A (p.Leu263=) rs2111008977
NM_000027.4(AGA):c.795C>T (p.Arg265=) rs2111008931
NM_000027.4(AGA):c.79C>T (p.Leu27=) rs2476886713
NM_000027.4(AGA):c.801G>T (p.Leu267=) rs1736730616
NM_000027.4(AGA):c.806+11T>G rs758650260
NM_000027.4(AGA):c.806+12T>A rs199903468
NM_000027.4(AGA):c.806+13dup rs1560946594
NM_000027.4(AGA):c.806+19T>C rs2476849682
NM_000027.4(AGA):c.807-13del
NM_000027.4(AGA):c.810C>T (p.Tyr270=) rs2476846203
NM_000027.4(AGA):c.816T>C (p.Ala272=) rs2476846185
NM_000027.4(AGA):c.81G>T (p.Leu27=) rs1197599023
NM_000027.4(AGA):c.822A>G (p.Glu274=) rs2111007039
NM_000027.4(AGA):c.867G>C (p.Val289=) rs2476845878
NM_000027.4(AGA):c.870T>C (p.Ile290=) rs2476845867
NM_000027.4(AGA):c.879C>T (p.Ile293=) rs776228749
NM_000027.4(AGA):c.897A>G (p.Glu299=) rs2111006864
NM_000027.4(AGA):c.906G>A (p.Gly302=) rs2111006840
NM_000027.4(AGA):c.936T>C (p.Ser312=) rs2476845566
NM_000027.4(AGA):c.940+13T>C rs2476845477
NM_000027.4(AGA):c.940+8G>A rs2111006715
NM_000027.4(AGA):c.940+8G>T rs2111006715
NM_000027.4(AGA):c.940+9T>C rs2111006710
NM_000027.4(AGA):c.941-17C>T rs2476841499
NM_000027.4(AGA):c.941-20T>C rs769899078
NM_000027.4(AGA):c.941-7G>T rs748346003
NM_000027.4(AGA):c.948T>C (p.Ala316=) rs2476841392
NM_000027.4(AGA):c.966A>G (p.Thr322=) rs753625719
NM_000027.4(AGA):c.978T>C (p.Phe326=) rs373878347
NM_000027.4(AGA):c.999C>G (p.Ser333=) rs1479579564
NM_000027.4(AGA):c.99T>C (p.Thr33=) rs2111028048

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.