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: 195
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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=)

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