ClinVar Miner

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

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 195
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 0.00168
NM_000262.3(NAGA):c.*1311T>C rs185586436 0.00142
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn) rs73167107 0.00128
NM_000262.3(NAGA):c.787T>A (p.Leu263Ile) rs140238609 0.00074
NM_000262.3(NAGA):c.837C>A (p.Pro279=) rs149066012 0.00064
NM_000262.3(NAGA):c.-394A>G rs377708906 0.00039
NM_000262.3(NAGA):c.1146T>C (p.Asp382=) rs6002590 0.00039
NM_000262.3(NAGA):c.993G>T (p.Leu331=) rs147853281 0.00029
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.483C>A (p.Thr161=) rs753065255 0.00004
NM_000262.3(NAGA):c.582C>T (p.Gly194=) rs553977653 0.00004
NM_000262.3(NAGA):c.598-9G>A rs772435890 0.00004
NM_000262.3(NAGA):c.598-10C>T rs776249174 0.00003
NM_000262.3(NAGA):c.1110C>T (p.Asp370=) rs781670429 0.00002
NM_000262.3(NAGA):c.759+10T>G rs906746504 0.00002
NM_000262.3(NAGA):c.1102-14C>A rs377439996 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.486C>T (p.Pro162=) rs760003063 0.00001
NM_000262.3(NAGA):c.502+9C>T rs768462917 0.00001
NM_000262.3(NAGA):c.549C>T (p.Ile183=) rs374984089 0.00001
NM_000262.3(NAGA):c.822G>A (p.Thr274=) rs765604983 0.00001
NM_000262.3(NAGA):c.957+7G>A rs1193330730 0.00001
NM_000262.3(NAGA):c.1008C>T (p.Ser336=)
NM_000262.3(NAGA):c.102A>G (p.Glu34=)
NM_000262.3(NAGA):c.1035C>T (p.Thr345=)
NM_000262.3(NAGA):c.1083C>A (p.Thr361=)
NM_000262.3(NAGA):c.1083C>T (p.Thr361=)
NM_000262.3(NAGA):c.1089T>G (p.Ser363=)
NM_000262.3(NAGA):c.1098T>C (p.Tyr366=)
NM_000262.3(NAGA):c.1101+10C>G
NM_000262.3(NAGA):c.1101+10C>T
NM_000262.3(NAGA):c.1101+11G>A
NM_000262.3(NAGA):c.1101+11G>C
NM_000262.3(NAGA):c.1102-10C>A
NM_000262.3(NAGA):c.1102-18T>C
NM_000262.3(NAGA):c.1102-7A>G
NM_000262.3(NAGA):c.1102-8C>T
NM_000262.3(NAGA):c.1102-9C>T
NM_000262.3(NAGA):c.1104C>T (p.Ala368=)
NM_000262.3(NAGA):c.111C>T (p.Arg37=)
NM_000262.3(NAGA):c.1182G>A (p.Gly394=)
NM_000262.3(NAGA):c.1197C>T (p.Tyr399=)
NM_000262.3(NAGA):c.1233G>A (p.Gln411=)
NM_000262.3(NAGA):c.126T>C (p.Cys42=)
NM_000262.3(NAGA):c.129T>C (p.Asp43=)
NM_000262.3(NAGA):c.141G>A (p.Lys47=)
NM_000262.3(NAGA):c.147C>T (p.Cys49=)
NM_000262.3(NAGA):c.150A>C (p.Ile50=)
NM_000262.3(NAGA):c.152+12C>T
NM_000262.3(NAGA):c.152+16A>G
NM_000262.3(NAGA):c.152+17C>A
NM_000262.3(NAGA):c.152+17C>G
NM_000262.3(NAGA):c.152+18_152+21del
NM_000262.3(NAGA):c.153-15T>C
NM_000262.3(NAGA):c.153-16C>T
NM_000262.3(NAGA):c.153-20A>T
NM_000262.3(NAGA):c.153-6C>G
NM_000262.3(NAGA):c.153-9C>T
NM_000262.3(NAGA):c.156A>G (p.Glu52=)
NM_000262.3(NAGA):c.16+12G>A
NM_000262.3(NAGA):c.16+16G>T
NM_000262.3(NAGA):c.16+8C>T
NM_000262.3(NAGA):c.17-12C>T
NM_000262.3(NAGA):c.17-13C>T rs2146845518
NM_000262.3(NAGA):c.17-14C>T
NM_000262.3(NAGA):c.17-16C>T
NM_000262.3(NAGA):c.17-19C>G
NM_000262.3(NAGA):c.17-4C>T
NM_000262.3(NAGA):c.17-5C>G
NM_000262.3(NAGA):c.17-5C>T
NM_000262.3(NAGA):c.171G>A (p.Glu57=)
NM_000262.3(NAGA):c.183G>T (p.Arg61=)
NM_000262.3(NAGA):c.189A>C (p.Ala63=)
NM_000262.3(NAGA):c.213C>T (p.Gly71=)
NM_000262.3(NAGA):c.234T>C (p.Asp78=)
NM_000262.3(NAGA):c.246C>A (p.Ile82=)
NM_000262.3(NAGA):c.246C>T (p.Ile82=)
NM_000262.3(NAGA):c.255C>T (p.Arg85=)
NM_000262.3(NAGA):c.261C>T (p.Ala87=)
NM_000262.3(NAGA):c.270C>T (p.Arg90=)
NM_000262.3(NAGA):c.291C>T (p.Arg97=) rs1464598696
NM_000262.3(NAGA):c.312C>T (p.Phe104=)
NM_000262.3(NAGA):c.324+13C>A
NM_000262.3(NAGA):c.324+15A>G
NM_000262.3(NAGA):c.324+17C>T
NM_000262.3(NAGA):c.324+8G>A
NM_000262.3(NAGA):c.324+8G>T
NM_000262.3(NAGA):c.325-10A>T
NM_000262.3(NAGA):c.325-19T>C
NM_000262.3(NAGA):c.325-21_325-3del
NM_000262.3(NAGA):c.325-5C>G
NM_000262.3(NAGA):c.325-5C>T
NM_000262.3(NAGA):c.325-8C>T
NM_000262.3(NAGA):c.333C>T (p.Ser111=)
NM_000262.3(NAGA):c.33T>C (p.His11=)
NM_000262.3(NAGA):c.357C>T (p.Tyr119=)
NM_000262.3(NAGA):c.369C>T (p.Gly123=)
NM_000262.3(NAGA):c.375C>T (p.Phe125=)
NM_000262.3(NAGA):c.411G>A (p.Lys137=)
NM_000262.3(NAGA):c.435C>T (p.Phe145=)
NM_000262.3(NAGA):c.438C>G (p.Ala146=) rs376622171
NM_000262.3(NAGA):c.438C>T (p.Ala146=)
NM_000262.3(NAGA):c.459C>G (p.Leu153=)
NM_000262.3(NAGA):c.459C>T (p.Leu153=)
NM_000262.3(NAGA):c.468T>C (p.Asp156=)
NM_000262.3(NAGA):c.480C>T (p.Ser160=)
NM_000262.3(NAGA):c.486C>G (p.Pro162=) rs760003063
NM_000262.3(NAGA):c.498C>T (p.Ala166=)
NM_000262.3(NAGA):c.502+10G>A
NM_000262.3(NAGA):c.502+10G>C
NM_000262.3(NAGA):c.502+16G>A
NM_000262.3(NAGA):c.502+17G>T
NM_000262.3(NAGA):c.502+18C>A
NM_000262.3(NAGA):c.502+19T>G
NM_000262.3(NAGA):c.502+7T>C
NM_000262.3(NAGA):c.502+8dup
NM_000262.3(NAGA):c.503-8T>C
NM_000262.3(NAGA):c.504G>A (p.Gly168=)
NM_000262.3(NAGA):c.507C>T (p.Tyr169=)
NM_000262.3(NAGA):c.543C>T (p.Arg181=)
NM_000262.3(NAGA):c.546C>T (p.Pro182=)
NM_000262.3(NAGA):c.573C>T (p.Ala191=) rs2146842828
NM_000262.3(NAGA):c.57C>T (p.Asp19=)
NM_000262.3(NAGA):c.585C>G (p.Gly195=)
NM_000262.3(NAGA):c.585C>T (p.Gly195=)
NM_000262.3(NAGA):c.588C>T (p.Leu196=)
NM_000262.3(NAGA):c.591C>A (p.Pro197=)
NM_000262.3(NAGA):c.591C>G (p.Pro197=)
NM_000262.3(NAGA):c.591C>T (p.Pro197=)
NM_000262.3(NAGA):c.595A>C (p.Arg199=)
NM_000262.3(NAGA):c.597+17C>G
NM_000262.3(NAGA):c.597+17C>T
NM_000262.3(NAGA):c.597+19T>A
NM_000262.3(NAGA):c.597+7C>A
NM_000262.3(NAGA):c.598-17T>C
NM_000262.3(NAGA):c.598-20G>A
NM_000262.3(NAGA):c.598-5T>C
NM_000262.3(NAGA):c.648T>C (p.Asp216=)
NM_000262.3(NAGA):c.651C>T (p.Asp217=)
NM_000262.3(NAGA):c.660C>T (p.Asp220=)
NM_000262.3(NAGA):c.66C>T (p.Leu22=)
NM_000262.3(NAGA):c.672C>T (p.Ser224=)
NM_000262.3(NAGA):c.675G>T (p.Val225=)
NM_000262.3(NAGA):c.678C>G (p.Leu226=)
NM_000262.3(NAGA):c.685C>T (p.Leu229=)
NM_000262.3(NAGA):c.687G>A (p.Leu229=)
NM_000262.3(NAGA):c.696C>T (p.Phe232=)
NM_000262.3(NAGA):c.702G>A (p.Glu234=)
NM_000262.3(NAGA):c.729C>T (p.Ala243=)
NM_000262.3(NAGA):c.732C>T (p.Gly244=)
NM_000262.3(NAGA):c.753T>C (p.Pro251=)
NM_000262.3(NAGA):c.759+11G>A
NM_000262.3(NAGA):c.759+14G>A
NM_000262.3(NAGA):c.759+18G>A
NM_000262.3(NAGA):c.760-13T>C
NM_000262.3(NAGA):c.760-17C>G
NM_000262.3(NAGA):c.760-17_760-15del
NM_000262.3(NAGA):c.760-5C>A
NM_000262.3(NAGA):c.760-9T>C
NM_000262.3(NAGA):c.765C>A (p.Leu255=)
NM_000262.3(NAGA):c.774C>T (p.Asn258=)
NM_000262.3(NAGA):c.780T>C (p.Gly260=)
NM_000262.3(NAGA):c.78A>T (p.Pro26=)
NM_000262.3(NAGA):c.801G>A (p.Arg267=)
NM_000262.3(NAGA):c.816G>T (p.Leu272=)
NM_000262.3(NAGA):c.834C>A (p.Ala278=)
NM_000262.3(NAGA):c.837C>G (p.Pro279=) rs149066012
NM_000262.3(NAGA):c.840C>A (p.Leu280=)
NM_000262.3(NAGA):c.843G>A (p.Leu281=)
NM_000262.3(NAGA):c.849C>T (p.Ser283=)
NM_000262.3(NAGA):c.867C>T (p.Ile289=)
NM_000262.3(NAGA):c.870C>T (p.Ser290=)
NM_000262.3(NAGA):c.879C>T (p.Asn293=)
NM_000262.3(NAGA):c.894G>A (p.Gln298=)
NM_000262.3(NAGA):c.903C>G (p.Leu301=)
NM_000262.3(NAGA):c.903C>T (p.Leu301=) rs765754053
NM_000262.3(NAGA):c.928T>C (p.Leu310=)
NM_000262.3(NAGA):c.939G>A (p.Gln313=)
NM_000262.3(NAGA):c.957+13G>A
NM_000262.3(NAGA):c.957+16G>A
NM_000262.3(NAGA):c.958-12T>A
NM_000262.3(NAGA):c.958-14C>T
NM_000262.3(NAGA):c.958-16C>T
NM_000262.3(NAGA):c.958-20T>G
NM_000262.3(NAGA):c.958-6G>A
NM_000262.3(NAGA):c.958-7T>C
NM_000262.3(NAGA):c.958-8G>A
NM_000262.3(NAGA):c.972C>T (p.Ile324=)

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.