ClinVar Miner

List of variants in gene NAGA reported as likely benign for Alpha-N-acetylgalactosaminidase deficiency type 1

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Gene type:
ClinVar version:
Total variants: 89
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HGVS dbSNP gnomAD frequency
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.787T>A (p.Leu263Ile) rs140238609 0.00074
NM_000262.3(NAGA):c.837C>A (p.Pro279=) rs149066012 0.00064
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.618G>A (p.Ala206=) rs200770245 0.00010
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.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.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.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.16+12G>A
NM_000262.3(NAGA):c.16+16G>T
NM_000262.3(NAGA):c.16+8C>T
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.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.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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