ClinVar Miner

List of variants studied for Alpha-N-acetylgalactosaminidase deficiency type 1 by Invitae

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Total variants: 35
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HGVS dbSNP
NM_000262.3(NAGA):c.104G>A (p.Arg35His)
NM_000262.3(NAGA):c.1142G>A (p.Arg381Gln) rs144771084
NM_000262.3(NAGA):c.1146T>C (p.Asp382=) rs6002590
NM_000262.3(NAGA):c.1209C>T (p.Ile403=) rs201582948
NM_000262.3(NAGA):c.1224_1225insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCTGGAGATG (p.Ser409fs)
NM_000262.3(NAGA):c.1225T>A (p.Ser409Thr) rs1569456853
NM_000262.3(NAGA):c.16G>A (p.Val6Met) rs1602499597
NM_000262.3(NAGA):c.230T>C (p.Ile77Thr)
NM_000262.3(NAGA):c.25C>T (p.Leu9=) rs147528904
NM_000262.3(NAGA):c.279G>A (p.Pro93=) rs133369
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn) rs73167107
NM_000262.3(NAGA):c.324+1G>A rs140673721
NM_000262.3(NAGA):c.358G>A (p.Ala120Thr) rs749506008
NM_000262.3(NAGA):c.360G>A (p.Ala120=) rs149600926
NM_000262.3(NAGA):c.406G>A (p.Asp136Asn) rs186173534
NM_000262.3(NAGA):c.406G>C (p.Asp136His) rs186173534
NM_000262.3(NAGA):c.443G>A (p.Trp148Ter)
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) rs121434532
NM_000262.3(NAGA):c.482C>T (p.Thr161Ile) rs141557187
NM_000262.3(NAGA):c.487G>A (p.Glu163Lys) rs372458856
NM_000262.3(NAGA):c.502+8A>T rs375946807
NM_000262.3(NAGA):c.598-15C>T rs2854827
NM_000262.3(NAGA):c.598-9G>A
NM_000262.3(NAGA):c.759+10T>G
NM_000262.3(NAGA):c.760-7C>A rs150693978
NM_000262.3(NAGA):c.787T>A (p.Leu263Ile) rs140238609
NM_000262.3(NAGA):c.833C>T (p.Ala278Val)
NM_000262.3(NAGA):c.837C>A (p.Pro279=) rs149066012
NM_000262.3(NAGA):c.838C>A (p.Leu280Ile)
NM_000262.3(NAGA):c.903C>T (p.Leu301=) rs765754053
NM_000262.3(NAGA):c.957+4C>G rs55715427
NM_000262.3(NAGA):c.957+7G>A rs1193330730
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529
NM_000262.3(NAGA):c.983T>C (p.Met328Thr) rs140356002
NM_000262.3(NAGA):c.993G>T (p.Leu331=) rs147853281

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