ClinVar Miner

List of variants studied for alpha-N-acetylgalactosaminidase deficiency type 2 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_000262.3(NAGA):c.279G>A (p.Pro93=) rs133369 0.64950
NM_000262.3(NAGA):c.*1929C>T rs5758566 0.62119
NM_000262.3(NAGA):c.-208G>C rs133375 0.61550
NM_000262.3(NAGA):c.*1333T>C rs1063392 0.38250
NM_000262.3(NAGA):c.598-15C>T rs2854827 0.21339
NM_000262.3(NAGA):c.*1035G>A rs62238588 0.05880
NM_000262.3(NAGA):c.957+4C>G rs55715427 0.05864
NM_000262.3(NAGA):c.*143C>T rs17002832 0.03106
NM_000262.3(NAGA):c.*1814C>T rs80313011 0.02824
NM_000262.3(NAGA):c.*12A>C rs2229547 0.02530
NM_000262.3(NAGA):c.*1930G>A rs144373253 0.01599
NM_000262.3(NAGA):c.*1103T>C rs117826003 0.01315
NM_000262.3(NAGA):c.*1696C>T rs11703233 0.01015
NM_000262.3(NAGA):c.*170G>A rs142863061 0.00626
NM_000262.3(NAGA):c.*161T>C rs150991002 0.00574
NM_000262.3(NAGA):c.25C>T (p.Leu9=) rs147528904 0.00293
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
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.1209C>T (p.Ile403=) rs201582948 0.00126
NM_000262.3(NAGA):c.*107G>A rs531819016 0.00076
NM_000262.3(NAGA):c.760-7C>A rs150693978 0.00063
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) rs121434532 0.00052
NM_000262.3(NAGA):c.*176C>G rs191051580 0.00048
NM_000262.3(NAGA):c.-394A>G rs377708906 0.00039
NM_000262.3(NAGA):c.*155A>G rs761125179 0.00034
NM_000262.3(NAGA):c.*1555C>T rs866446194 0.00032
NM_000262.3(NAGA):c.993G>T (p.Leu331=) rs147853281 0.00029
NM_000262.3(NAGA):c.697G>A (p.Val233Met) rs201294991 0.00018
NM_000262.3(NAGA):c.493C>T (p.Arg165Trp) rs200080569 0.00017
NM_000262.3(NAGA):c.*572G>A rs538578699 0.00014
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.110G>A (p.Arg37His) rs199834981 0.00009
NM_000262.3(NAGA):c.*1501C>G rs750373836 0.00006
NM_000262.3(NAGA):c.*55C>T rs1004630693 0.00006
NM_000262.3(NAGA):c.*1724C>G rs892278914 0.00004
NM_000262.3(NAGA):c.-43C>T rs753592199 0.00004
NM_000262.3(NAGA):c.324C>T (p.Tyr108=) rs182798205 0.00004
NM_000262.3(NAGA):c.582C>T (p.Gly194=) rs553977653 0.00004
NM_000262.3(NAGA):c.638G>A (p.Arg213His) rs781499383 0.00003
NM_000262.3(NAGA):c.859C>T (p.Arg287Cys) rs368220690 0.00003
NM_000262.3(NAGA):c.*1252T>C rs886057593 0.00001
NM_000262.3(NAGA):c.*268G>A rs886057596 0.00001
NM_000262.3(NAGA):c.1013T>C (p.Leu338Ser) rs778343270 0.00001
NM_000262.3(NAGA):c.12G>A (p.Lys4=) rs776865602 0.00001
NM_000262.3(NAGA):c.19C>T (p.Leu7Phe) rs886057597 0.00001
NM_000262.3(NAGA):c.549C>T (p.Ile183=) rs374984089 0.00001
NM_000262.3(NAGA):c.*1090G>A rs886057594
NM_000262.3(NAGA):c.*1299C>T rs886057592
NM_000262.3(NAGA):c.*1484A>G rs1433090840
NM_000262.3(NAGA):c.*1788_*1789del rs10713176
NM_000262.3(NAGA):c.*1789del rs10713176
NM_000262.3(NAGA):c.*1862C>A rs1926176961
NM_000262.3(NAGA):c.*730T>C rs1926239462
NM_000262.3(NAGA):c.*926C>G rs886057595
NM_000262.3(NAGA):c.-306C>A rs886057598
NM_000262.3(NAGA):c.-496G>C rs886057599
NM_000262.3(NAGA):c.-502A>C rs886057600
NM_000262.3(NAGA):c.406G>A (p.Asp136Asn) rs186173534
NM_000262.3(NAGA):c.486C>G (p.Pro162=) rs760003063

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