ClinVar Miner

List of variants reported as likely benign for HNSHA due to aldolase A deficiency by Invitae

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ClinVar version:
Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_001365304.2(LOC112694756):c.*621+4C>T rs200278984 0.00204
NM_001365304.2(LOC112694756):c.*1134-20G>A rs75559164 0.00071
NM_001243177.4(ALDOA):c.471T>A (p.Gly157=) rs142231603 0.00058
NM_001243177.4(ALDOA):c.1182A>G (p.Gln394=) rs143419532 0.00046
NM_001365304.2(LOC112694756):c.*1309-20G>A rs189723657 0.00025
NM_001243177.4(ALDOA):c.426G>A (p.Ala142=) rs772550893 0.00019
NM_001243177.4(ALDOA):c.668A>G (p.Asn223Ser) rs142957871 0.00019
NM_001365304.2(LOC112694756):c.*1308+12A>G rs200733968 0.00014
NM_001243177.4(ALDOA):c.922G>A (p.Val308Ile) rs142759891 0.00013
NM_001365304.2(LOC112694756):c.*622-5C>T rs752764982 0.00008
NM_001243177.4(ALDOA):c.1107C>T (p.Gly369=) rs142315181 0.00006
NM_001243177.4(ALDOA):c.1002G>A (p.Ala334=) rs532473202 0.00005
NM_001243177.4(ALDOA):c.585C>T (p.Asp195=) rs150741747 0.00005
NM_001243177.4(ALDOA):c.312G>A (p.Glu104=) rs779556052 0.00004
NM_001243177.4(ALDOA):c.591T>C (p.Ala197=) rs751360534 0.00004
NM_001243177.4(ALDOA):c.609T>C (p.Arg203=) rs765883841 0.00004
NM_001243177.4(ALDOA):c.921C>T (p.Thr307=) rs148503847 0.00004
NM_001365304.2(LOC112694756):c.*1508+8T>C rs751467136 0.00004
NM_001243177.4(ALDOA):c.945G>C (p.Val315=) rs780658545 0.00003
NM_001365304.2(LOC112694756):c.*834-9C>T rs1057523259 0.00003
NM_001243177.4(ALDOA):c.498C>T (p.Gly166=) rs145811469 0.00002
NM_001243177.4(ALDOA):c.597C>T (p.Phe199=) rs769378422 0.00002
NM_001243177.4(ALDOA):c.1134G>A (p.Ala378=) rs530089317 0.00001
NM_001243177.4(ALDOA):c.1233C>T (p.Leu411=) rs3169548 0.00001
NM_001243177.4(ALDOA):c.309C>T (p.Thr103=) rs758280973 0.00001
NM_001243177.4(ALDOA):c.720C>T (p.Ile240=) rs573479181 0.00001
NM_001243177.4(ALDOA):c.996G>C (p.Glu332Asp) rs565013143 0.00001
NM_001243177.4(ALDOA):c.1008C>T (p.Ile336=)
NM_001243177.4(ALDOA):c.1029G>A (p.Lys343=)
NM_001243177.4(ALDOA):c.1047C>T (p.Pro349=)
NM_001243177.4(ALDOA):c.1080G>A (p.Leu360=)
NM_001243177.4(ALDOA):c.1080G>T (p.Leu360=)
NM_001243177.4(ALDOA):c.1158C>T (p.Ala386=)
NM_001243177.4(ALDOA):c.1224C>T (p.Ser408=)
NM_001243177.4(ALDOA):c.1236C>T (p.Phe412=)
NM_001243177.4(ALDOA):c.1248C>T (p.His416=)
NM_001243177.4(ALDOA):c.1251C>T (p.Ala417=)
NM_001243177.4(ALDOA):c.184C>T (p.Leu62=)
NM_001243177.4(ALDOA):c.189C>T (p.Thr63=)
NM_001243177.4(ALDOA):c.288G>A (p.Lys96=)
NM_001243177.4(ALDOA):c.318C>T (p.Thr106=)
NM_001243177.4(ALDOA):c.364G>A (p.Asp122Asn)
NM_001243177.4(ALDOA):c.396C>T (p.Ile132=)
NM_001243177.4(ALDOA):c.408G>A (p.Glu136=)
NM_001243177.4(ALDOA):c.423G>A (p.Lys141=)
NM_001243177.4(ALDOA):c.447C>T (p.Pro149=)
NM_001243177.4(ALDOA):c.462C>T (p.Ser154=)
NM_001243177.4(ALDOA):c.525C>T (p.Gly175=)
NM_001243177.4(ALDOA):c.552G>C (p.Gly184=)
NM_001243177.4(ALDOA):c.576C>T (p.Tyr192=)
NM_001243177.4(ALDOA):c.582G>A (p.Lys194=)
NM_001243177.4(ALDOA):c.588A>C (p.Gly196=)
NM_001243177.4(ALDOA):c.630A>G (p.Glu210=)
NM_001243177.4(ALDOA):c.636C>T (p.Thr212=)
NM_001243177.4(ALDOA):c.684T>C (p.Tyr228=) rs1596813728
NM_001243177.4(ALDOA):c.729T>C (p.Pro243=)
NM_001243177.4(ALDOA):c.780C>T (p.Thr260=)
NM_001243177.4(ALDOA):c.804C>T (p.Tyr268=)
NM_001243177.4(ALDOA):c.828C>T (p.Ile276=)
NM_001243177.4(ALDOA):c.867C>T (p.Thr289=)
NM_001243177.4(ALDOA):c.900T>C (p.His300=)
NM_001243177.4(ALDOA):c.912C>T (p.Ala304=)
NM_001243177.4(ALDOA):c.918G>A (p.Ala306=)
NM_001243177.4(ALDOA):c.951C>A (p.Pro317=)
NM_001243177.4(ALDOA):c.963G>C (p.Gly321=)
NM_001243177.4(ALDOA):c.966C>T (p.Ile322=)
NM_001365304.2(LOC112694756):c.*1049+12G>A
NM_001365304.2(LOC112694756):c.*1049+17T>C
NM_001365304.2(LOC112694756):c.*1049+20A>G
NM_001365304.2(LOC112694756):c.*1049+7C>T
NM_001365304.2(LOC112694756):c.*1049+8T>C
NM_001365304.2(LOC112694756):c.*1050-10C>T
NM_001365304.2(LOC112694756):c.*1050-12C>T
NM_001365304.2(LOC112694756):c.*1050-7C>T
NM_001365304.2(LOC112694756):c.*1050-9G>A
NM_001365304.2(LOC112694756):c.*1133+11A>G
NM_001365304.2(LOC112694756):c.*1134-12G>C
NM_001365304.2(LOC112694756):c.*1134-17C>T
NM_001365304.2(LOC112694756):c.*1134-4C>T
NM_001365304.2(LOC112694756):c.*1308+15C>T
NM_001365304.2(LOC112694756):c.*1309-7T>G
NM_001365304.2(LOC112694756):c.*1309-8C>T
NM_001365304.2(LOC112694756):c.*1508+9A>T
NM_001365304.2(LOC112694756):c.*1508+9_*1508+19dup
NM_001365304.2(LOC112694756):c.*1509-11T>C
NM_001365304.2(LOC112694756):c.*1509-14C>A
NM_001365304.2(LOC112694756):c.*1509-14C>T
NM_001365304.2(LOC112694756):c.*1509-16C>T
NM_001365304.2(LOC112694756):c.*1509-17C>T
NM_001365304.2(LOC112694756):c.*1509-18A>T
NM_001365304.2(LOC112694756):c.*622-11G>C
NM_001365304.2(LOC112694756):c.*622-15A>G
NM_001365304.2(LOC112694756):c.*622-3del
NM_001365304.2(LOC112694756):c.*833+10G>A
NM_001365304.2(LOC112694756):c.*833+16C>T
NM_001365304.2(LOC112694756):c.*833+17C>T
NM_001365304.2(LOC112694756):c.*833+18G>A
NM_001365304.2(LOC112694756):c.*833+19G>A
NM_001365304.2(LOC112694756):c.*833+9A>C
NM_001365304.2(LOC112694756):c.*834-14C>T
NM_001365304.2(LOC112694756):c.*834-19G>A
NM_001365304.2(LOC112694756):c.*888+8C>T

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