ClinVar Miner

List of variants in gene ALDH7A1 reported as uncertain significance for Pyridoxine-dependent epilepsy

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Total variants: 93
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HGVS dbSNP
NM_001182.4(ALDH7A1):c.*1441C>T rs541286622
NM_001182.4(ALDH7A1):c.*1484T>C rs886059841
NM_001182.4(ALDH7A1):c.*1496T>A rs886059840
NM_001182.4(ALDH7A1):c.*1529A>G rs886059839
NM_001182.4(ALDH7A1):c.*1693A>C rs557939339
NM_001182.4(ALDH7A1):c.*1730C>T rs185960737
NM_001182.4(ALDH7A1):c.*1748_*1749delTGinsAT rs386692155
NM_001182.4(ALDH7A1):c.*1836C>A rs763990036
NM_001182.4(ALDH7A1):c.*1839G>A rs886059838
NM_001182.4(ALDH7A1):c.*2126G>A rs115168957
NM_001182.4(ALDH7A1):c.*2314T>C rs561998848
NM_001182.4(ALDH7A1):c.*2365C>T rs886059837
NM_001182.4(ALDH7A1):c.*2387A>G rs116566135
NM_001182.4(ALDH7A1):c.*2409A>C rs776633516
NM_001182.4(ALDH7A1):c.*2423C>T rs114575585
NM_001182.4(ALDH7A1):c.*2464dupT rs200155555
NM_001182.4(ALDH7A1):c.*2492C>T rs768166252
NM_001182.4(ALDH7A1):c.*2512G>A rs76363408
NM_001182.4(ALDH7A1):c.*2549G>C rs556404419
NM_001182.4(ALDH7A1):c.*2568_*2569dupGC rs771970643
NM_001182.4(ALDH7A1):c.*2584C>A rs886059836
NM_001182.4(ALDH7A1):c.*2700A>T rs886059835
NM_001182.4(ALDH7A1):c.*2781C>T rs886059834
NM_001182.4(ALDH7A1):c.*2818T>C rs886059833
NM_001182.4(ALDH7A1):c.*2820dupT rs886059832
NM_001182.4(ALDH7A1):c.*2996_*2997dupTT rs5871217
NM_001182.4(ALDH7A1):c.*3124A>G rs572425402
NM_001182.4(ALDH7A1):c.*403C>T rs112493228
NM_001182.4(ALDH7A1):c.*404G>A rs533678440
NM_001182.4(ALDH7A1):c.*409delG rs556732113
NM_001182.4(ALDH7A1):c.*641G>A rs372065850
NM_001182.4(ALDH7A1):c.*65G>A rs886059848
NM_001182.4(ALDH7A1):c.*690T>C rs139905907
NM_001182.4(ALDH7A1):c.*717G>A rs886059847
NM_001182.4(ALDH7A1):c.*898_*900delGAG rs543290589
NM_001182.4(ALDH7A1):c.-29T>C rs556650006
NM_001182.4(ALDH7A1):c.-80T>G rs563928852
NM_001182.4(ALDH7A1):c.1008+11C>T rs367574304
NM_001182.4(ALDH7A1):c.1010T>G (p.Phe337Cys) rs747834606
NM_001182.4(ALDH7A1):c.1046G>C (p.Arg349Thr) rs553114356
NM_001182.4(ALDH7A1):c.1084C>T (p.Pro362Ser) rs532800318
NM_001182.4(ALDH7A1):c.1163C>G (p.Ala388Gly)
NM_001182.4(ALDH7A1):c.119C>G (p.Ala40Gly)
NM_001182.4(ALDH7A1):c.119C>T (p.Ala40Val) rs745385277
NM_001182.4(ALDH7A1):c.1301A>G (p.Tyr434Cys) rs747597620
NM_001182.4(ALDH7A1):c.1356A>C (p.Lys452Asn)
NM_001182.4(ALDH7A1):c.1406G>A (p.Arg469His) rs147940248
NM_001182.4(ALDH7A1):c.1439T>C (p.Ile480Thr) rs886059849
NM_001182.4(ALDH7A1):c.1451A>G (p.Asn484Ser)
NM_001182.4(ALDH7A1):c.1520A>C (p.Glu507Ala) rs80049945
NM_001182.4(ALDH7A1):c.154G>C (p.Glu52Gln) rs765562932
NM_001182.4(ALDH7A1):c.1559C>T (p.Ser520Phe) rs1554097854
NM_001182.4(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684
NM_001182.4(ALDH7A1):c.16C>T (p.Arg6Cys)
NM_001182.4(ALDH7A1):c.203C>A (p.Thr68Asn) rs58528748
NM_001182.4(ALDH7A1):c.20C>T (p.Ala7Val)
NM_001182.4(ALDH7A1):c.246+6A>T rs759910341
NM_001182.4(ALDH7A1):c.247G>A (p.Ala83Thr)
NM_001182.4(ALDH7A1):c.263A>T (p.Tyr88Phe) rs376294954
NM_001182.4(ALDH7A1):c.283G>A (p.Ala95Thr)
NM_001182.4(ALDH7A1):c.313-15G>A rs201720741
NM_001182.4(ALDH7A1):c.31_33delCACinsGAG (p.His11Glu) rs796052269
NM_001182.4(ALDH7A1):c.354C>T (p.Gly118=) rs149228266
NM_001182.4(ALDH7A1):c.355G>A (p.Asp119Asn) rs1212969829
NM_001182.4(ALDH7A1):c.359C>G (p.Ala120Gly) rs549279821
NM_001182.4(ALDH7A1):c.364C>T (p.Arg122Trp) rs370624118
NM_001182.4(ALDH7A1):c.373A>G (p.Ile125Val) rs117295656
NM_001182.4(ALDH7A1):c.394-15G>A rs766287925
NM_001182.4(ALDH7A1):c.518-8G>A rs886059850
NM_001182.4(ALDH7A1):c.542A>G (p.Gln181Arg) rs796052257
NM_001182.4(ALDH7A1):c.553G>A (p.Val185Ile) rs61757685
NM_001182.4(ALDH7A1):c.553G>T (p.Val185Leu) rs61757685
NM_001182.4(ALDH7A1):c.56C>T (p.Ser19Phe) rs566243475
NM_001182.4(ALDH7A1):c.575C>T (p.Thr192Met) rs376917645
NM_001182.4(ALDH7A1):c.577G>A (p.Ala193Thr) rs773503933
NM_001182.4(ALDH7A1):c.615C>T (p.Asn205=) rs369380330
NM_001182.4(ALDH7A1):c.664A>G (p.Thr222Ala) rs777829351
NM_001182.4(ALDH7A1):c.682G>A (p.Val228Met) rs201832111
NM_001182.4(ALDH7A1):c.686C>T (p.Ala229Val) rs1473102872
NM_001182.4(ALDH7A1):c.79G>C (p.Ala27Pro) rs1060502950
NM_001182.4(ALDH7A1):c.860A>G (p.Gln287Arg) rs796052261
NM_001182.4(ALDH7A1):c.8G>A (p.Arg3His) rs759866910
NM_001182.4(ALDH7A1):c.8G>T (p.Arg3Leu) rs759866910
NM_001182.4(ALDH7A1):c.914C>G (p.Ala305Gly) rs141775154
NM_001182.4(ALDH7A1):c.936C>G (p.Ser312Arg)
NM_001182.4(ALDH7A1):c.952G>A (p.Ala318Thr)
NM_001182.4(ALDH7A1):c.952G>C (p.Ala318Pro) rs936151635
NM_001182.4(ALDH7A1):c.987G>T (p.Arg329Ser)
NM_001182.4(ALDH7A1):c.995C>G (p.Thr332Ser)
NM_001182.4:c.244delC
NM_001182.5(ALDH7A1):c.141_142insA (p.Arg48Thrfs)
NM_001182.5(ALDH7A1):c.1556G>A (p.Arg519Lys)
NM_001182.5(ALDH7A1):c.995C>T (p.Thr332Ile)

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