ClinVar Miner

List of variants in gene combination ALDOA, LOC112694756 reported by GeneDx

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Gene type:
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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_001243177.4(ALDOA):c.142-63G>C rs9783783 0.51663
NC_000016.10:g.30055012_30055013del rs34855001 0.32451
NM_001243177.4(ALDOA):c.1161+17G>T rs2071390 0.14716
NM_001243177.4(ALDOA):c.487-243T>C rs75721735 0.10199
NM_001243177.4(ALDOA):c.787-40C>T rs11860935 0.08503
NM_001243177.4(ALDOA):c.487-115A>T rs114445168 0.01746
NC_000016.10:g.30054946G>A rs41280858 0.01206
NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=) rs77290575 0.01132
NM_001243177.4(ALDOA):c.542-16C>A rs78124282 0.00797
NM_001243177.4(ALDOA):c.961+55C>T rs148066566 0.00588
NM_001243177.4(ALDOA):c.541+42G>A rs34429195 0.00445
NC_000016.10:g.30053445C>T rs146025467 0.00356
NM_001243177.4(ALDOA):c.411A>G (p.Thr137=) rs76767223 0.00347
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser) rs138824667 0.00248
NM_001243177.4(ALDOA):c.787-51C>A rs189419268 0.00217
NM_001243177.4(ALDOA):c.274+4C>T rs200278984 0.00204
NM_001243177.4(ALDOA):c.648C>G (p.Leu216=) rs112110009 0.00124
NM_001243177.4(ALDOA):c.274+29G>A rs74983000 0.00122
NM_001243177.4(ALDOA):c.787-20G>A rs75559164 0.00072
NM_001243177.4(ALDOA):c.471T>A (p.Gly157=) rs142231603 0.00058
NM_001243177.4(ALDOA):c.962-63C>T rs141764904 0.00056
NM_001243177.4(ALDOA):c.1182A>G (p.Gln394=) rs143419532 0.00046
NM_001243177.4(ALDOA):c.962-20G>A rs189723657 0.00025
NC_000016.10:g.30054945G>C rs914905804 0.00024
NM_001243177.4(ALDOA):c.973C>T (p.Leu325=) rs111252736 0.00022
NC_000016.10:g.30053469G>A rs774449859 0.00019
NM_001243177.4(ALDOA):c.922G>A (p.Val308Ile) rs142759891 0.00015
NM_001243177.4(ALDOA):c.961+12A>G rs200733968 0.00014
NM_001243177.4(ALDOA):c.1002G>A (p.Ala334=) rs532473202 0.00006
NM_001243177.4(ALDOA):c.585C>T (p.Asp195=) rs150741747 0.00005
NC_000016.10:g.30054780C>G rs554730607 0.00004
NC_000016.10:g.30054797C>T rs566612278 0.00004
NM_001243177.4(ALDOA):c.929C>T (p.Ala310Val) rs201658390 0.00004
NM_001243177.4(ALDOA):c.487-9C>T rs1057523259 0.00003
NM_001243177.4(ALDOA):c.591T>C (p.Ala197=) rs751360534 0.00003
NM_001243177.4(ALDOA):c.498C>T (p.Gly166=) rs145811469 0.00002
NC_000016.10:g.30053492C>T rs1393272651 0.00001
NM_001243177.4(ALDOA):c.1032C>T (p.Cys344=) rs767840312 0.00001
NM_001243177.4(ALDOA):c.1134G>A (p.Ala378=) rs530089317 0.00001
NM_001243177.4(ALDOA):c.192G>A (p.Pro64=) rs760287676 0.00001
NM_001243177.4(ALDOA):c.309C>T (p.Thr103=) rs758280973 0.00001
NM_001243177.4(ALDOA):c.597C>T (p.Phe199=) rs769378422 0.00001
NM_001243177.4(ALDOA):c.764G>A (p.Arg255His) rs534264493 0.00001
NM_001243177.4(ALDOA):c.787-15C>G rs920112127 0.00001
NM_184043.2(ALDOA):c.-108C>T rs1013012373 0.00001
NM_184043.2(ALDOA):c.-22+11A>C rs1057523415 0.00001
NM_184043.2(ALDOA):c.-88T>G rs1026737159 0.00001
NC_000016.10:g.30053202C>T rs1057521393
NM_001243177.4(ALDOA):c.1064_1066del (p.Ser355del) rs760550827
NM_001243177.4(ALDOA):c.1073G>A (p.Arg358Gln) rs1332829045
NM_001243177.4(ALDOA):c.141+88G>A rs76642620
NM_001243177.4(ALDOA):c.225C>T (p.His75=) rs11553110
NM_001243177.4(ALDOA):c.308C>T (p.Thr103Ile)
NM_001243177.4(ALDOA):c.486+17C>G rs78209292
NM_001243177.4(ALDOA):c.487-143_487-138del rs56857043
NM_001243177.4(ALDOA):c.961+11C>T rs1057523917
NM_001243177.4(ALDOA):c.961+17T>C rs566755208
NM_184043.2(ALDOA):c.-22+15dup rs964620994

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