ClinVar Miner

List of variants reported as likely benign for alpha-N-acetylgalactosaminidase deficiency type 3

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 209
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000262.3(NAGA):c.*1930G>A rs144373253 0.01599
NM_000262.3(NAGA):c.25C>T (p.Leu9=) rs147528904 0.00293
NM_000262.3(NAGA):c.*555C>T rs141688392 0.00156
NM_000262.3(NAGA):c.*1311T>C rs185586436 0.00142
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn) rs73167107 0.00123
NM_000262.3(NAGA):c.787T>A (p.Leu263Ile) rs140238609 0.00069
NM_000262.3(NAGA):c.837C>A (p.Pro279=) rs149066012 0.00058
NM_000262.3(NAGA):c.1146T>C (p.Asp382=) rs6002590 0.00041
NM_000262.3(NAGA):c.-394A>G rs377708906 0.00039
NM_000262.3(NAGA):c.993G>T (p.Leu331=) rs147853281 0.00029
NM_000262.3(NAGA):c.958-20T>G rs373851304 0.00025
NM_000262.3(NAGA):c.360G>A (p.Ala120=) rs149600926 0.00021
NM_000262.3(NAGA):c.482C>T (p.Thr161Ile) rs141557187 0.00013
NM_000262.3(NAGA):c.618G>A (p.Ala206=) rs200770245 0.00010
NM_000262.3(NAGA):c.324+7C>T rs372174335 0.00006
NM_000262.3(NAGA):c.502+8A>T rs375946807 0.00006
NM_000262.3(NAGA):c.870C>T (p.Ser290=) rs144984228 0.00006
NM_000262.3(NAGA):c.459C>T (p.Leu153=) rs199946665 0.00005
NM_000262.3(NAGA):c.729C>T (p.Ala243=) rs748050996 0.00005
NM_000262.3(NAGA):c.324+8G>A rs367928319 0.00004
NM_000262.3(NAGA):c.375C>T (p.Phe125=) rs199894141 0.00004
NM_000262.3(NAGA):c.483C>A (p.Thr161=) rs753065255 0.00004
NM_000262.3(NAGA):c.598-9G>A rs772435890 0.00004
NM_000262.3(NAGA):c.1098T>C (p.Tyr366=) rs756467855 0.00003
NM_000262.3(NAGA):c.246C>T (p.Ile82=) rs372626291 0.00003
NM_000262.3(NAGA):c.270C>T (p.Arg90=) rs547692110 0.00003
NM_000262.3(NAGA):c.325-19T>C rs1471688324 0.00003
NM_000262.3(NAGA):c.595A>C (p.Arg199=) rs371198022 0.00003
NM_000262.3(NAGA):c.598-10C>T rs776249174 0.00003
NM_000262.3(NAGA):c.1008C>T (p.Ser336=) rs758171119 0.00002
NM_000262.3(NAGA):c.1110C>T (p.Asp370=) rs781670429 0.00002
NM_000262.3(NAGA):c.126T>C (p.Cys42=) rs769239952 0.00002
NM_000262.3(NAGA):c.153-6C>G rs746700790 0.00002
NM_000262.3(NAGA):c.435C>T (p.Phe145=) rs1438923916 0.00002
NM_000262.3(NAGA):c.502+10G>A rs1348464824 0.00002
NM_000262.3(NAGA):c.502+16G>A rs372720391 0.00002
NM_000262.3(NAGA):c.502+9C>T rs768462917 0.00002
NM_000262.3(NAGA):c.582C>T (p.Gly194=) rs553977653 0.00002
NM_000262.3(NAGA):c.597+19T>A rs1569458296 0.00002
NM_000262.3(NAGA):c.759+10T>G rs906746504 0.00002
NM_000262.3(NAGA):c.760-17C>G rs776889125 0.00002
NM_000262.3(NAGA):c.765C>A (p.Leu255=) rs758213230 0.00002
NM_000262.3(NAGA):c.1035C>T (p.Thr345=) rs753153559 0.00001
NM_000262.3(NAGA):c.1083C>T (p.Thr361=) rs776461399 0.00001
NM_000262.3(NAGA):c.1101+10C>T rs1926338841 0.00001
NM_000262.3(NAGA):c.1101+11G>A rs755551148 0.00001
NM_000262.3(NAGA):c.1102-14C>A rs377439996 0.00001
NM_000262.3(NAGA):c.1102-7A>G rs371615628 0.00001
NM_000262.3(NAGA):c.1182G>A (p.Gly394=) rs1028674665 0.00001
NM_000262.3(NAGA):c.1233G>A (p.Gln411=) rs1402967695 0.00001
NM_000262.3(NAGA):c.12G>A (p.Lys4=) rs776865602 0.00001
NM_000262.3(NAGA):c.132G>A (p.Glu44=) rs1306749721 0.00001
NM_000262.3(NAGA):c.147C>T (p.Cys49=) rs1289256898 0.00001
NM_000262.3(NAGA):c.152+16A>G rs1349930683 0.00001
NM_000262.3(NAGA):c.152+17C>A rs779313441 0.00001
NM_000262.3(NAGA):c.153-15T>C rs768042401 0.00001
NM_000262.3(NAGA):c.17-16C>T rs375610513 0.00001
NM_000262.3(NAGA):c.183G>T (p.Arg61=) rs748590013 0.00001
NM_000262.3(NAGA):c.189A>C (p.Ala63=) rs202203650 0.00001
NM_000262.3(NAGA):c.312C>T (p.Phe104=) rs1199863266 0.00001
NM_000262.3(NAGA):c.324+17C>T rs780342742 0.00001
NM_000262.3(NAGA):c.325-8C>T rs191020126 0.00001
NM_000262.3(NAGA):c.33T>C (p.His11=) rs1246863538 0.00001
NM_000262.3(NAGA):c.357C>T (p.Tyr119=) rs1926795693 0.00001
NM_000262.3(NAGA):c.369C>T (p.Gly123=) rs1189741708 0.00001
NM_000262.3(NAGA):c.486C>T (p.Pro162=) rs760003063 0.00001
NM_000262.3(NAGA):c.502+19T>G rs1176287892 0.00001
NM_000262.3(NAGA):c.503-8T>C rs1926762078 0.00001
NM_000262.3(NAGA):c.549C>T (p.Ile183=) rs374984089 0.00001
NM_000262.3(NAGA):c.585C>T (p.Gly195=) rs949245422 0.00001
NM_000262.3(NAGA):c.598-17T>C rs1292075965 0.00001
NM_000262.3(NAGA):c.648T>C (p.Asp216=) rs950579752 0.00001
NM_000262.3(NAGA):c.651C>T (p.Asp217=) rs1191361327 0.00001
NM_000262.3(NAGA):c.672C>T (p.Ser224=) rs762986390 0.00001
NM_000262.3(NAGA):c.685C>T (p.Leu229=) rs1304910533 0.00001
NM_000262.3(NAGA):c.696C>T (p.Phe232=) rs572342989 0.00001
NM_000262.3(NAGA):c.702G>A (p.Glu234=) rs776267590 0.00001
NM_000262.3(NAGA):c.759+11G>A rs769923001 0.00001
NM_000262.3(NAGA):c.78A>T (p.Pro26=) rs752883930 0.00001
NM_000262.3(NAGA):c.822G>A (p.Thr274=) rs765604983 0.00001
NM_000262.3(NAGA):c.843G>A (p.Leu281=) rs941555581 0.00001
NM_000262.3(NAGA):c.849C>T (p.Ser283=) rs746074383 0.00001
NM_000262.3(NAGA):c.879C>T (p.Asn293=) rs969875692 0.00001
NM_000262.3(NAGA):c.939G>A (p.Gln313=) rs956137203 0.00001
NM_000262.3(NAGA):c.957+13G>A rs1486310637 0.00001
NM_000262.3(NAGA):c.957+16G>A rs1224333300 0.00001
NM_000262.3(NAGA):c.957+7G>A rs1193330730 0.00001
NM_000262.3(NAGA):c.958-7T>C rs767512113 0.00001
NM_000262.3(NAGA):c.972C>T (p.Ile324=) rs763141651 0.00001
NM_000262.3(NAGA):c.102A>G (p.Glu34=) rs2519067204
NM_000262.3(NAGA):c.1083C>A (p.Thr361=) rs776461399
NM_000262.3(NAGA):c.1089T>G (p.Ser363=) rs1926341152
NM_000262.3(NAGA):c.1101+10C>G rs1926338841
NM_000262.3(NAGA):c.1101+11G>C rs755551148
NM_000262.3(NAGA):c.1102-10C>A rs2519052446
NM_000262.3(NAGA):c.1102-18T>C rs1926298532
NM_000262.3(NAGA):c.1102-8C>T rs923435337
NM_000262.3(NAGA):c.1102-9C>T rs2519052434
NM_000262.3(NAGA):c.1104C>T (p.Ala368=) rs2519052402
NM_000262.3(NAGA):c.111C>T (p.Arg37=) rs766264575
NM_000262.3(NAGA):c.1134T>C (p.Ser378=)
NM_000262.3(NAGA):c.1197C>T (p.Tyr399=) rs767513496
NM_000262.3(NAGA):c.129T>C (p.Asp43=) rs1926872156
NM_000262.3(NAGA):c.141G>A (p.Lys47=) rs1222258638
NM_000262.3(NAGA):c.150A>C (p.Ile50=) rs2146845298
NM_000262.3(NAGA):c.152+12C>T rs2519066999
NM_000262.3(NAGA):c.152+17C>G rs779313441
NM_000262.3(NAGA):c.152+18_152+21del rs2519066973
NM_000262.3(NAGA):c.152+9G>T
NM_000262.3(NAGA):c.153-16C>T rs776152931
NM_000262.3(NAGA):c.153-20A>T rs751221139
NM_000262.3(NAGA):c.153-9C>T rs1320806565
NM_000262.3(NAGA):c.156A>G (p.Glu52=) rs2519066079
NM_000262.3(NAGA):c.16+12G>A rs745831241
NM_000262.3(NAGA):c.16+16G>T rs2519069815
NM_000262.3(NAGA):c.16+19G>A
NM_000262.3(NAGA):c.16+8C>T rs2519069836
NM_000262.3(NAGA):c.17-10dup
NM_000262.3(NAGA):c.17-12C>T rs780877285
NM_000262.3(NAGA):c.17-13C>T rs2146845518
NM_000262.3(NAGA):c.17-14C>T rs747798266
NM_000262.3(NAGA):c.17-19C>G rs2519067571
NM_000262.3(NAGA):c.17-4C>T rs2519067520
NM_000262.3(NAGA):c.17-5C>G rs1170409651
NM_000262.3(NAGA):c.17-5C>T rs1170409651
NM_000262.3(NAGA):c.171G>A (p.Glu57=) rs1419350078
NM_000262.3(NAGA):c.213C>T (p.Gly71=) rs370210976
NM_000262.3(NAGA):c.234T>C (p.Asp78=) rs1911352897
NM_000262.3(NAGA):c.246C>A (p.Ile82=) rs372626291
NM_000262.3(NAGA):c.255C>T (p.Arg85=) rs775152449
NM_000262.3(NAGA):c.261C>T (p.Ala87=) rs1488681636
NM_000262.3(NAGA):c.291C>T (p.Arg97=) rs1464598696
NM_000262.3(NAGA):c.324+13C>A rs747102552
NM_000262.3(NAGA):c.324+15A>G rs2519065453
NM_000262.3(NAGA):c.324+8G>T rs367928319
NM_000262.3(NAGA):c.325-10A>T rs1926798065
NM_000262.3(NAGA):c.325-15C>T
NM_000262.3(NAGA):c.325-21_325-3del rs2519064458
NM_000262.3(NAGA):c.325-5C>G rs370826068
NM_000262.3(NAGA):c.325-5C>T rs370826068
NM_000262.3(NAGA):c.333C>T (p.Ser111=) rs745871964
NM_000262.3(NAGA):c.411G>A (p.Lys137=) rs2519064248
NM_000262.3(NAGA):c.417C>T (p.Val139=)
NM_000262.3(NAGA):c.438C>G (p.Ala146=) rs376622171
NM_000262.3(NAGA):c.438C>T (p.Ala146=) rs376622171
NM_000262.3(NAGA):c.459C>G (p.Leu153=) rs199946665
NM_000262.3(NAGA):c.468T>C (p.Asp156=) rs2519064094
NM_000262.3(NAGA):c.480C>T (p.Ser160=) rs2519064076
NM_000262.3(NAGA):c.486C>G (p.Pro162=) rs760003063
NM_000262.3(NAGA):c.498C>T (p.Ala166=) rs2519064003
NM_000262.3(NAGA):c.502+10G>C rs1348464824
NM_000262.3(NAGA):c.502+17G>T rs369609933
NM_000262.3(NAGA):c.502+18C>A rs745333936
NM_000262.3(NAGA):c.502+7T>C rs2519063978
NM_000262.3(NAGA):c.502+8dup rs2519063970
NM_000262.3(NAGA):c.504G>A (p.Gly168=) rs1926761886
NM_000262.3(NAGA):c.507C>T (p.Tyr169=) rs1926761323
NM_000262.3(NAGA):c.543C>T (p.Arg181=) rs1269047981
NM_000262.3(NAGA):c.546C>T (p.Pro182=) rs2065611376
NM_000262.3(NAGA):c.573C>T (p.Ala191=) rs2146842828
NM_000262.3(NAGA):c.57C>T (p.Asp19=) rs2519067349
NM_000262.3(NAGA):c.585C>G (p.Gly195=) rs949245422
NM_000262.3(NAGA):c.588C>T (p.Leu196=) rs1926754375
NM_000262.3(NAGA):c.591C>A (p.Pro197=) rs760412026
NM_000262.3(NAGA):c.591C>G (p.Pro197=) rs760412026
NM_000262.3(NAGA):c.591C>T (p.Pro197=) rs760412026
NM_000262.3(NAGA):c.597+16C>A
NM_000262.3(NAGA):c.597+17C>G rs769437615
NM_000262.3(NAGA):c.597+17C>T rs769437615
NM_000262.3(NAGA):c.597+7C>A rs1360014242
NM_000262.3(NAGA):c.598-20G>A rs2146841669
NM_000262.3(NAGA):c.598-5T>C rs2519061590
NM_000262.3(NAGA):c.660C>T (p.Asp220=) rs2519061429
NM_000262.3(NAGA):c.66C>T (p.Leu22=) rs1363500183
NM_000262.3(NAGA):c.675G>T (p.Val225=) rs1371113044
NM_000262.3(NAGA):c.678C>G (p.Leu226=) rs1156598807
NM_000262.3(NAGA):c.687G>A (p.Leu229=) rs2519061363
NM_000262.3(NAGA):c.732C>T (p.Gly244=) rs1265891158
NM_000262.3(NAGA):c.753T>C (p.Pro251=) rs2519061185
NM_000262.3(NAGA):c.759+14G>A rs2519061140
NM_000262.3(NAGA):c.759+15G>A
NM_000262.3(NAGA):c.759+18G>A rs755300395
NM_000262.3(NAGA):c.760-13T>C rs2519056788
NM_000262.3(NAGA):c.760-17_760-15del rs749656484
NM_000262.3(NAGA):c.760-5C>A rs2519056761
NM_000262.3(NAGA):c.760-9T>C rs2519056780
NM_000262.3(NAGA):c.774C>T (p.Asn258=) rs778751528
NM_000262.3(NAGA):c.780T>C (p.Gly260=) rs2519056693
NM_000262.3(NAGA):c.798C>T (p.Ser266=)
NM_000262.3(NAGA):c.801G>A (p.Arg267=) rs2519056655
NM_000262.3(NAGA):c.816G>T (p.Leu272=) rs767038086
NM_000262.3(NAGA):c.834C>A (p.Ala278=) rs2146837621
NM_000262.3(NAGA):c.837C>G (p.Pro279=) rs149066012
NM_000262.3(NAGA):c.840C>A (p.Leu280=) rs1266997234
NM_000262.3(NAGA):c.852A>G (p.Thr284=)
NM_000262.3(NAGA):c.867C>T (p.Ile289=) rs1926491745
NM_000262.3(NAGA):c.894G>A (p.Gln298=) rs1926490037
NM_000262.3(NAGA):c.903C>G (p.Leu301=) rs765754053
NM_000262.3(NAGA):c.903C>T (p.Leu301=) rs765754053
NM_000262.3(NAGA):c.928T>C (p.Leu310=) rs2519056292
NM_000262.3(NAGA):c.957+17G>A
NM_000262.3(NAGA):c.957+9G>A
NM_000262.3(NAGA):c.958-12T>A rs2519053694
NM_000262.3(NAGA):c.958-14C>T rs1926356029
NM_000262.3(NAGA):c.958-16C>T rs2519053703
NM_000262.3(NAGA):c.958-6G>A rs759595696
NM_000262.3(NAGA):c.958-8G>A rs2519053685
NM_000262.3(NAGA):c.969C>G (p.Leu323=)
NM_000262.3(NAGA):c.991C>T (p.Leu331=)

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