ClinVar Miner

List of variants reported as uncertain significance for alpha-N-acetylgalactosaminidase deficiency type 3

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00219
NM_000262.3(NAGA):c.1209C>T (p.Ile403=) rs201582948 0.00126
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn) rs73167107 0.00123
NM_000262.3(NAGA):c.*107G>A rs531819016 0.00076
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) rs121434532 0.00049
NM_000262.3(NAGA):c.*176C>G rs191051580 0.00048
NM_000262.3(NAGA):c.*155A>G rs761125179 0.00035
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.*572G>A rs538578699 0.00019
NM_000262.3(NAGA):c.493C>T (p.Arg165Trp) rs200080569 0.00017
NM_000262.3(NAGA):c.697G>A (p.Val233Met) rs201294991 0.00017
NM_000262.3(NAGA):c.819G>T (p.Trp273Cys) rs144669656 0.00013
NM_000262.3(NAGA):c.230T>C (p.Ile77Thr) rs375884363 0.00010
NM_000262.3(NAGA):c.618G>A (p.Ala206=) rs200770245 0.00010
NM_000262.3(NAGA):c.1009G>A (p.Ala337Thr) rs144560510 0.00009
NM_000262.3(NAGA):c.110G>A (p.Arg37His) rs199834981 0.00009
NM_000262.3(NAGA):c.541C>T (p.Arg181Cys) rs367943149 0.00008
NM_000262.3(NAGA):c.871G>A (p.Ala291Thr) rs372146176 0.00007
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 0.00005
NM_000262.3(NAGA):c.103C>T (p.Arg35Cys) rs376933189 0.00005
NM_000262.3(NAGA):c.983T>C (p.Met328Thr) rs140356002 0.00005
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.925C>T (p.Pro309Ser) rs760857039 0.00004
NM_000262.3(NAGA):c.358G>A (p.Ala120Thr) rs749506008 0.00003
NM_000262.3(NAGA):c.487G>A (p.Glu163Lys) rs372458856 0.00003
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.1111G>A (p.Val371Ile) rs755283571 0.00002
NM_000262.3(NAGA):c.1172A>G (p.Asn391Ser) rs752717782 0.00002
NM_000262.3(NAGA):c.295C>G (p.Pro99Ala) rs557714930 0.00002
NM_000262.3(NAGA):c.582C>T (p.Gly194=) rs553977653 0.00002
NM_000262.3(NAGA):c.730G>A (p.Gly244Ser) rs774739651 0.00002
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.-306C>A rs886057598 0.00001
NM_000262.3(NAGA):c.-502A>C rs886057600 0.00001
NM_000262.3(NAGA):c.1013T>C (p.Leu338Ser) rs778343270 0.00001
NM_000262.3(NAGA):c.1066G>A (p.Gly356Ser) rs773407787 0.00001
NM_000262.3(NAGA):c.1085G>A (p.Gly362Glu) rs199980021 0.00001
NM_000262.3(NAGA):c.1141C>T (p.Arg381Ter) rs750450177 0.00001
NM_000262.3(NAGA):c.1142G>A (p.Arg381Gln) rs144771084 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.256G>A (p.Asp86Asn) rs771645171 0.00001
NM_000262.3(NAGA):c.542G>A (p.Arg181His) rs777425990 0.00001
NM_000262.3(NAGA):c.549C>T (p.Ile183=) rs374984089 0.00001
NM_000262.3(NAGA):c.646G>A (p.Asp216Asn) rs754849987 0.00001
NM_000262.3(NAGA):c.802G>A (p.Ala268Thr) rs1569457519 0.00001
NM_000262.3(NAGA):c.91C>G (p.Leu31Val) rs1036331863 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.*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.-496G>C rs886057599
NM_000262.3(NAGA):c.1036G>A (p.Asp346Asn) rs370975865
NM_000262.3(NAGA):c.104G>A (p.Arg35His) rs1926874320
NM_000262.3(NAGA):c.1172A>C (p.Asn391Thr) rs752717782
NM_000262.3(NAGA):c.1208T>C (p.Ile403Thr) rs995869251
NM_000262.3(NAGA):c.1224_1225insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCTGGAGATG (p.Ser409fs) rs1926286045
NM_000262.3(NAGA):c.1225T>A (p.Ser409Thr) rs1569456853
NM_000262.3(NAGA):c.123C>G (p.Asn41Lys) rs773254588
NM_000262.3(NAGA):c.16G>A (p.Val6Met) rs1602499597
NM_000262.3(NAGA):c.289C>G (p.Arg97Gly) rs140775168
NM_000262.3(NAGA):c.314T>A (p.Leu105Gln) rs759251501
NM_000262.3(NAGA):c.337G>T (p.Gly113Cys) rs2519064419
NM_000262.3(NAGA):c.365T>C (p.Met122Thr) rs1435943514
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.486C>G (p.Pro162=) rs760003063
NM_000262.3(NAGA):c.491A>C (p.Glu164Ala) rs1041551272
NM_000262.3(NAGA):c.563G>C (p.Ser188Thr) rs1432299051
NM_000262.3(NAGA):c.592C>T (p.Pro198Ser) rs139027070
NM_000262.3(NAGA):c.673G>A (p.Val225Met)
NM_000262.3(NAGA):c.759+17G>T rs2519061130
NM_000262.3(NAGA):c.833C>T (p.Ala278Val) rs762474603
NM_000262.3(NAGA):c.838C>G (p.Leu280Val) rs578127376
NM_000262.3(NAGA):c.850A>G (p.Thr284Ala)
NM_000262.3(NAGA):c.882G>T (p.Met294Ile) rs2146837496

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