ClinVar Miner

List of variants in gene ALDH7A1 reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_001182.5(ALDH7A1):c.1315A>C (p.Lys439Gln) rs12514417 0.08598
NM_001182.5(ALDH7A1):c.273T>C (p.Thr91=) rs60720055 0.06152
NM_001182.5(ALDH7A1):c.675C>T (p.Leu225=) rs57902950 0.01833
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684 0.00449
NM_001182.4(ALDH7A1):c.-80T>G rs563928852 0.00308
NM_001182.5(ALDH7A1):c.1234A>G (p.Thr412Ala) rs2306618 0.00250
NM_001182.5(ALDH7A1):c.373A>G (p.Ile125Val) rs117295656 0.00144
NM_001182.5(ALDH7A1):c.1406G>A (p.Arg469His) rs147940248 0.00118
NM_001182.5(ALDH7A1):c.243A>G (p.Arg81=) rs146438406 0.00095
NM_001182.5(ALDH7A1):c.34del (p.Ala12fs) rs750693623 0.00057
NM_001182.5(ALDH7A1):c.615C>T (p.Asn205=) rs369380330 0.00042
NM_001182.5(ALDH7A1):c.203C>A (p.Thr68Asn) rs58528748 0.00032
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_001182.5(ALDH7A1):c.8G>A (p.Arg3His) rs759866910 0.00022
NM_001182.5(ALDH7A1):c.39A>G (p.Ala13=) rs201566142 0.00020
NM_001182.5(ALDH7A1):c.1276A>G (p.Thr426Ala) rs150305320 0.00019
NM_001182.5(ALDH7A1):c.914C>G (p.Ala305Gly) rs141775154 0.00019
NM_001182.5(ALDH7A1):c.553G>A (p.Val185Ile) rs61757685 0.00016
NM_001182.5(ALDH7A1):c.960C>T (p.Phe320=) rs114516357 0.00014
NM_001182.5(ALDH7A1):c.1305C>G (p.Val435=) rs142975776 0.00010
NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter) rs121912708 0.00010
NM_001182.5(ALDH7A1):c.781A>G (p.Met261Val) rs767172222 0.00010
NM_001182.5(ALDH7A1):c.200C>T (p.Thr67Met) rs543181020 0.00007
NM_001182.5(ALDH7A1):c.1150G>A (p.Ala384Thr) rs140947675 0.00006
NM_001182.5(ALDH7A1):c.365G>C (p.Arg122Pro) rs796052256 0.00006
NM_001182.5(ALDH7A1):c.529G>C (p.Ala177Pro) rs140102105 0.00006
NM_001182.5(ALDH7A1):c.1017T>C (p.His339=) rs200394848 0.00004
NM_001182.5(ALDH7A1):c.1022G>A (p.Ser341Asn) rs141701364 0.00004
NM_001182.5(ALDH7A1):c.1461A>G (p.Thr487=) rs372488916 0.00004
NM_001182.5(ALDH7A1):c.154G>C (p.Glu52Gln) rs765562932 0.00004
NM_001182.5(ALDH7A1):c.364C>T (p.Arg122Trp) rs370624118 0.00004
NM_001182.5(ALDH7A1):c.834G>A (p.Val278=) rs201948406 0.00004
NM_001182.5(ALDH7A1):c.1073G>T (p.Arg358Leu) rs144671885 0.00003
NM_001182.5(ALDH7A1):c.1292C>T (p.Pro431Leu) rs151107837 0.00003
NM_001182.5(ALDH7A1):c.354C>T (p.Gly118=) rs149228266 0.00003
NM_001182.5(ALDH7A1):c.359C>G (p.Ala120Gly) rs549279821 0.00003
NM_001182.5(ALDH7A1):c.56C>T (p.Ser19Phe) rs566243475 0.00003
NM_001182.5(ALDH7A1):c.664A>G (p.Thr222Ala) rs777829351 0.00003
NM_001182.5(ALDH7A1):c.826A>G (p.Thr276Ala) rs796052260 0.00002
NM_001182.5(ALDH7A1):c.1046G>C (p.Arg349Thr) rs553114356 0.00001
NM_001182.5(ALDH7A1):c.1232C>T (p.Pro411Leu) rs780233639 0.00001
NM_001182.5(ALDH7A1):c.1244C>T (p.Thr415Ile) rs751898560 0.00001
NM_001182.5(ALDH7A1):c.1293G>A (p.Pro431=) rs538504116 0.00001
NM_001182.5(ALDH7A1):c.1489+5G>A rs368820286 0.00001
NM_001182.5(ALDH7A1):c.394-5T>C rs1299570489 0.00001
NM_001182.5(ALDH7A1):c.43_46dup (p.Ser16fs) rs767805540 0.00001
NM_001182.5(ALDH7A1):c.651-5T>C rs770931075 0.00001
NM_001182.5(ALDH7A1):c.67A>G (p.Ser23Gly) rs796052266 0.00001
NM_001182.5(ALDH7A1):c.770T>C (p.Ile257Thr) rs776202861 0.00001
NM_001182.5(ALDH7A1):c.807G>A (p.Leu269=) rs774216010 0.00001
NM_001182.5(ALDH7A1):c.907A>G (p.Ile303Val) rs765153843 0.00001
NM_001182.4(ALDH7A1):c.1493_1495delGAG rs796052268
NM_001182.5(ALDH7A1):c.108G>C (p.Gln36His)
NM_001182.5(ALDH7A1):c.1138A>G (p.Met380Val) rs1750106169
NM_001182.5(ALDH7A1):c.1163C>G (p.Ala388Gly) rs1561651205
NM_001182.5(ALDH7A1):c.1181C>T (p.Thr394Ile)
NM_001182.5(ALDH7A1):c.1190A>C (p.Tyr397Ser)
NM_001182.5(ALDH7A1):c.119C>G (p.Ala40Gly) rs745385277
NM_001182.5(ALDH7A1):c.1297C>T (p.Leu433Phe)
NM_001182.5(ALDH7A1):c.1318-372_1318-161del
NM_001182.5(ALDH7A1):c.138G>A (p.Gly46=) rs770975428
NM_001182.5(ALDH7A1):c.1512T>C (p.Gly504=)
NM_001182.5(ALDH7A1):c.1559C>T (p.Ser520Phe) rs1554097854
NM_001182.5(ALDH7A1):c.1570A>G (p.Ile524Val)
NM_001182.5(ALDH7A1):c.229A>G (p.Ile77Val)
NM_001182.5(ALDH7A1):c.247-1G>C rs1060502949
NM_001182.5(ALDH7A1):c.285_286insG (p.Arg96fs) rs758414053
NM_001182.5(ALDH7A1):c.31_33delinsGAG (p.His11Glu) rs796052269
NM_001182.5(ALDH7A1):c.359C>A (p.Ala120Asp) rs549279821
NM_001182.5(ALDH7A1):c.430G>A (p.Val144Met) rs1481441203
NM_001182.5(ALDH7A1):c.452T>C (p.Val151Ala) rs1561667040
NM_001182.5(ALDH7A1):c.50dup (p.Leu18fs) rs1444879414
NM_001182.5(ALDH7A1):c.623C>T (p.Ala208Val) rs200433565
NM_001182.5(ALDH7A1):c.723C>T (p.Asn241=)
NM_001182.5(ALDH7A1):c.726G>A (p.Lys242=) rs1420938162
NM_001182.5(ALDH7A1):c.733G>A (p.Gly245Ser)
NM_001182.5(ALDH7A1):c.743G>A (p.Cys248Tyr)
NM_001182.5(ALDH7A1):c.74C>T (p.Pro25Leu)
NM_001182.5(ALDH7A1):c.788A>G (p.Lys263Arg) rs1750659916
NM_001182.5(ALDH7A1):c.79G>C (p.Ala27Pro) rs1060502950
NM_001182.5(ALDH7A1):c.810G>A (p.Leu270=)
NM_001182.5(ALDH7A1):c.871G>T (p.Gly291Trp) rs1750656759
NM_001182.5(ALDH7A1):c.8G>T (p.Arg3Leu) rs759866910
NM_001182.5(ALDH7A1):c.947dup (p.Ser317fs) rs778003597
NM_001182.5(ALDH7A1):c.951A>G (p.Ser317=)
NM_001182.5(ALDH7A1):c.995C>G (p.Thr332Ser) rs543182575

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