ClinVar Miner

List of variants studied for alpha-N-acetylgalactosaminidase deficiency by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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HGVS dbSNP
NM_000262.3(NAGA):c.*1035G>A rs62238588
NM_000262.3(NAGA):c.*1090G>A rs886057594
NM_000262.3(NAGA):c.*1252T>C rs886057593
NM_000262.3(NAGA):c.*1299C>T rs886057592
NM_000262.3(NAGA):c.*12A>C rs2229547
NM_000262.3(NAGA):c.*1333T>C rs1063392
NM_000262.3(NAGA):c.*143C>T rs17002832
NM_000262.3(NAGA):c.*1501C>G rs750373836
NM_000262.3(NAGA):c.*155A>G rs761125179
NM_000262.3(NAGA):c.*161T>C rs150991002
NM_000262.3(NAGA):c.*1696C>T rs11703233
NM_000262.3(NAGA):c.*176C>G rs191051580
NM_000262.3(NAGA):c.*1788_*1789del rs10713176
NM_000262.3(NAGA):c.*1789del rs10713176
NM_000262.3(NAGA):c.*1814C>T rs80313011
NM_000262.3(NAGA):c.*1929C>T rs5758566
NM_000262.3(NAGA):c.*268G>A rs886057596
NM_000262.3(NAGA):c.*555C>T rs141688392
NM_000262.3(NAGA):c.*926C>G rs886057595
NM_000262.3(NAGA):c.-208G>C rs133375
NM_000262.3(NAGA):c.-306C>A rs886057598
NM_000262.3(NAGA):c.-43C>T rs753592199
NM_000262.3(NAGA):c.-496G>C rs886057599
NM_000262.3(NAGA):c.-502A>C rs886057600
NM_000262.3(NAGA):c.1013T>C (p.Leu338Ser) rs778343270
NM_000262.3(NAGA):c.110G>A (p.Arg37His) rs199834981
NM_000262.3(NAGA):c.19C>T (p.Leu7Phe) rs886057597
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.406G>A (p.Asp136Asn) rs186173534
NM_000262.3(NAGA):c.549C>T (p.Ile183=) rs374984089
NM_000262.3(NAGA):c.598-15C>T rs2854827
NM_000262.3(NAGA):c.638G>A (p.Arg213His) rs781499383
NM_000262.3(NAGA):c.760-7C>A rs150693978
NM_000262.3(NAGA):c.859C>T (p.Arg287Cys) rs368220690
NM_000262.3(NAGA):c.957+4C>G rs55715427
NM_000262.3(NAGA):c.993G>T (p.Leu331=) rs147853281

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