List of variants reported as uncertain significance for HNSHA due to aldolase A deficiency

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

Total variants: 111

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HGVS	dbSNP	gnomAD frequency
NM_001365304.2(LOC112694756):c.*1740C>T	rs191226606	0.00274
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser)	rs138824667	0.00256
NM_001365304.2(LOC112694756):c.*621+4C>T	rs200278984	0.00204
NM_001243177.4(ALDOA):c.679C>T (p.Arg227Cys)	rs374042346	0.00025
NM_001365304.2(LOC112694756):c.*1700C>T	rs886051897	0.00024
NM_001243177.4(ALDOA):c.1068C>T (p.Tyr356=)	rs200761497	0.00019
NM_001243177.4(ALDOA):c.668A>G (p.Asn223Ser)	rs142957871	0.00019
NM_001243177.4(ALDOA):c.898C>T (p.His300Tyr)	rs144693278	0.00016
NM_001243177.4(ALDOA):c.922G>A (p.Val308Ile)	rs142759891	0.00013
NM_001365304.2(LOC112694756):c.*1680C>T	rs886051896	0.00013
NM_001365304.2(LOC112694756):c.*1676T>G	rs886051895	0.00009
NM_001365304.2(LOC112694756):c.*1705G>A	rs539833998	0.00009
NM_001365304.2(LOC112694756):c.*622-5C>T	rs752764982	0.00008
NM_001243177.4(ALDOA):c.223C>T (p.His75Tyr)	rs766734350	0.00007
NM_001243177.4(ALDOA):c.926C>T (p.Thr309Ile)	rs368207656	0.00007
NM_001243177.4(ALDOA):c.1107C>T (p.Gly369=)	rs142315181	0.00006
NM_001243177.4(ALDOA):c.382A>C (p.Ile128Leu)	rs747788394	0.00006
NM_001243177.4(ALDOA):c.375C>G (p.Asn125Lys)	rs146976414	0.00005
NM_001243177.4(ALDOA):c.312G>A (p.Glu104=)	rs779556052	0.00004
NM_001243177.4(ALDOA):c.764G>A (p.Arg255His)	rs534264493	0.00004
NM_001243177.4(ALDOA):c.929C>T (p.Ala310Val)	rs201658390	0.00004
NM_001243177.4(ALDOA):c.1129G>T (p.Ala377Ser)	rs148828956	0.00003
NM_001243177.4(ALDOA):c.219C>T (p.Ile73=)	rs773402743	0.00003
NM_001243177.4(ALDOA):c.226C>T (p.Arg76Cys)	rs145582724	0.00003
NM_001243177.4(ALDOA):c.475G>T (p.Val159Leu)	rs570385246	0.00002
NM_001243177.4(ALDOA):c.639C>G (p.Pro213=)	rs758499704	0.00002
NM_001243177.4(ALDOA):c.807G>T (p.Lys269Asn)	rs1455309434	0.00002
NM_001243177.4(ALDOA):c.1069G>A (p.Gly357Ser)	rs746068220	0.00001
NM_001243177.4(ALDOA):c.1120A>T (p.Asn374Tyr)	rs886051894	0.00001
NM_001243177.4(ALDOA):c.1134G>A (p.Ala378=)	rs530089317	0.00001
NM_001243177.4(ALDOA):c.217A>G (p.Ile73Val)	rs929389001	0.00001
NM_001243177.4(ALDOA):c.322G>A (p.Glu108Lys)	rs199852002	0.00001
NM_001243177.4(ALDOA):c.436C>T (p.Arg146Cys)	rs776187312	0.00001
NM_001243177.4(ALDOA):c.520A>G (p.Asn174Asp)	rs775705038	0.00001
NM_001243177.4(ALDOA):c.563G>A (p.Arg188His)	rs778814633	0.00001
NM_001243177.4(ALDOA):c.572A>T (p.Gln191Leu)	rs1283845684	0.00001
NM_001243177.4(ALDOA):c.644C>T (p.Ala215Val)	rs1463243958	0.00001
NM_001243177.4(ALDOA):c.821A>G (p.His274Arg)	rs760807537	0.00001
NM_001243177.4(ALDOA):c.910G>A (p.Ala304Thr)	rs886051893	0.00001
NM_001243177.4(ALDOA):c.937C>T (p.Arg313Cys)	rs779421883	0.00001
NM_001365304.2(LOC112694756):c.*621+5G>A	rs774939475	0.00001
NC_000016.9:g.(?_29802081)_(30199917_?)dup
NC_000016.9:g.(?_30066083)_(30081533_?)dup
NM_001243177.4(ALDOA):c.1010A>G (p.Asn337Ser)
NM_001243177.4(ALDOA):c.1033C>A (p.Pro345Thr)
NM_001243177.4(ALDOA):c.1085C>T (p.Ala362Val)
NM_001243177.4(ALDOA):c.1114A>G (p.Lys372Glu)
NM_001243177.4(ALDOA):c.1124T>C (p.Leu375Pro)
NM_001243177.4(ALDOA):c.1141G>A (p.Glu381Lys)
NM_001243177.4(ALDOA):c.1151A>G (p.Lys384Arg)
NM_001243177.4(ALDOA):c.1154G>A (p.Arg385Gln)
NM_001243177.4(ALDOA):c.1156G>A (p.Ala386Thr)
NM_001243177.4(ALDOA):c.1160del (p.Leu387fs)
NM_001243177.4(ALDOA):c.1169G>C (p.Ser390Thr)
NM_001243177.4(ALDOA):c.1171C>G (p.Leu391Val)
NM_001243177.4(ALDOA):c.1186A>G (p.Lys396Glu)
NM_001243177.4(ALDOA):c.1208C>G (p.Ala403Gly)	rs1261199026
NM_001243177.4(ALDOA):c.1250C>T (p.Ala417Val)
NM_001243177.4(ALDOA):c.174A>G (p.Gln58=)	rs2072147536
NM_001243177.4(ALDOA):c.181G>A (p.Ala61Thr)
NM_001243177.4(ALDOA):c.220G>A (p.Ala74Thr)
NM_001243177.4(ALDOA):c.239C>T (p.Pro80Leu)
NM_001243177.4(ALDOA):c.273T>G (p.Thr91=)	rs2151015694
NM_001243177.4(ALDOA):c.289C>T (p.Arg97Trp)
NM_001243177.4(ALDOA):c.290G>A (p.Arg97Gln)	rs549146709
NM_001243177.4(ALDOA):c.290G>C (p.Arg97Pro)
NM_001243177.4(ALDOA):c.299C>T (p.Ser100Phe)
NM_001243177.4(ALDOA):c.302T>C (p.Ile101Thr)
NM_001243177.4(ALDOA):c.316A>G (p.Thr106Ala)
NM_001243177.4(ALDOA):c.317C>T (p.Thr106Ile)
NM_001243177.4(ALDOA):c.323A>G (p.Glu108Gly)
NM_001243177.4(ALDOA):c.330_331delinsCT (p.Arg111Cys)
NM_001243177.4(ALDOA):c.357_359del (p.Ala120del)
NM_001243177.4(ALDOA):c.364G>C (p.Asp122His)	rs201468609
NM_001243177.4(ALDOA):c.368G>A (p.Arg123His)
NM_001243177.4(ALDOA):c.400T>C (p.Phe134Leu)	rs2151016133
NM_001243177.4(ALDOA):c.425C>T (p.Ala142Val)
NM_001243177.4(ALDOA):c.437G>A (p.Arg146His)	rs747482925
NM_001243177.4(ALDOA):c.466G>T (p.Gly156Cys)
NM_001243177.4(ALDOA):c.469G>A (p.Gly157Ser)
NM_001243177.4(ALDOA):c.472G>A (p.Val158Ile)	rs2072169825
NM_001243177.4(ALDOA):c.499G>A (p.Val167Met)
NM_001243177.4(ALDOA):c.505C>T (p.Pro169Ser)
NM_001243177.4(ALDOA):c.515G>A (p.Gly172Glu)
NM_001243177.4(ALDOA):c.524G>A (p.Gly175Asp)
NM_001243177.4(ALDOA):c.562C>T (p.Arg188Cys)
NM_001243177.4(ALDOA):c.590C>A (p.Ala197Asp)
NM_001243177.4(ALDOA):c.613G>T (p.Val205Leu)
NM_001243177.4(ALDOA):c.649G>A (p.Ala217Thr)
NM_001243177.4(ALDOA):c.659A>G (p.Glu220Gly)	rs886051892
NM_001243177.4(ALDOA):c.680G>A (p.Arg227His)
NM_001243177.4(ALDOA):c.698A>T (p.Gln233Leu)	rs2151018036
NM_001243177.4(ALDOA):c.721G>A (p.Val241Met)
NM_001243177.4(ALDOA):c.733A>G (p.Ile245Val)
NM_001243177.4(ALDOA):c.763C>T (p.Arg255Cys)
NM_001243177.4(ALDOA):c.797C>T (p.Ala266Val)
NM_001243177.4(ALDOA):c.799G>C (p.Val267Leu)
NM_001243177.4(ALDOA):c.803A>G (p.Tyr268Cys)
NM_001243177.4(ALDOA):c.861G>A (p.Met287Ile)
NM_001243177.4(ALDOA):c.876T>G (p.His292Gln)
NM_001243177.4(ALDOA):c.884C>T (p.Thr295Ile)
NM_001243177.4(ALDOA):c.922G>C (p.Val308Leu)
NM_001243177.4(ALDOA):c.925A>G (p.Thr309Ala)
NM_001243177.4(ALDOA):c.934C>T (p.Arg312Cys)
NM_001243177.4(ALDOA):c.935G>A (p.Arg312His)
NM_001243177.4(ALDOA):c.951del (p.Ala318fs)
NM_001365304.2(LOC112694756):c.*1049+3G>A	rs2072219927
NM_001365304.2(LOC112694756):c.*1309-2dup
NM_001365304.2(LOC112694756):c.*622-9C>G
NM_001365304.2(LOC112694756):c.*888+17del	rs886051891
NM_001365304.2(LOC112694756):c.*889-3T>C

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