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

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 83

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HGVS	dbSNP	gnomAD frequency
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)	rs121434529	0.00225
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.479C>G (p.Ser160Cys)	rs121434532	0.00052
NM_000262.3(NAGA):c.*176C>G	rs191051580	0.00048
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.230T>C (p.Ile77Thr)	rs375884363	0.00011
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.871G>A (p.Ala291Thr)	rs372146176	0.00008
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.103C>T (p.Arg35Cys)	rs376933189	0.00006
NM_000262.3(NAGA):c.983T>C (p.Met328Thr)	rs140356002	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.487G>A (p.Glu163Lys)	rs372458856	0.00004
NM_000262.3(NAGA):c.582C>T (p.Gly194=)	rs553977653	0.00004
NM_000262.3(NAGA):c.*1252T>C	rs886057593	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.358G>A (p.Ala120Thr)	rs749506008	0.00002
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.1085G>A (p.Gly362Glu)	rs199980021	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.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.*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.-306C>A	rs886057598
NM_000262.3(NAGA):c.-496G>C	rs886057599
NM_000262.3(NAGA):c.-502A>C	rs886057600
NM_000262.3(NAGA):c.1009G>A (p.Ala337Thr)
NM_000262.3(NAGA):c.1036G>A (p.Asp346Asn)
NM_000262.3(NAGA):c.104G>A (p.Arg35His)	rs1926874320
NM_000262.3(NAGA):c.1066G>A (p.Gly356Ser)
NM_000262.3(NAGA):c.1141C>T (p.Arg381Ter)
NM_000262.3(NAGA):c.1172A>C (p.Asn391Thr)	rs752717782
NM_000262.3(NAGA):c.1172A>G (p.Asn391Ser)
NM_000262.3(NAGA):c.1208T>C (p.Ile403Thr)
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)
NM_000262.3(NAGA):c.16G>A (p.Val6Met)	rs1602499597
NM_000262.3(NAGA):c.256G>A (p.Asp86Asn)
NM_000262.3(NAGA):c.289C>G (p.Arg97Gly)	rs140775168
NM_000262.3(NAGA):c.295C>G (p.Pro99Ala)
NM_000262.3(NAGA):c.314T>A (p.Leu105Gln)
NM_000262.3(NAGA):c.337G>T (p.Gly113Cys)
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)
NM_000262.3(NAGA):c.541C>T (p.Arg181Cys)
NM_000262.3(NAGA):c.563G>C (p.Ser188Thr)
NM_000262.3(NAGA):c.592C>T (p.Pro198Ser)	rs139027070
NM_000262.3(NAGA):c.730G>A (p.Gly244Ser)
NM_000262.3(NAGA):c.759+17G>T
NM_000262.3(NAGA):c.819G>T (p.Trp273Cys)
NM_000262.3(NAGA):c.833C>T (p.Ala278Val)	rs762474603
NM_000262.3(NAGA):c.838C>G (p.Leu280Val)
NM_000262.3(NAGA):c.882G>T (p.Met294Ile)
NM_000262.3(NAGA):c.91C>G (p.Leu31Val)
NM_000262.3(NAGA):c.925C>T (p.Pro309Ser)

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