ClinVar Miner

List of variants in gene ALDH7A1 reported as likely pathogenic

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Gene type:
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Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_001182.5(ALDH7A1):c.34del (p.Ala12fs) rs750693623 0.00057
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
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.1556G>A (p.Arg519Lys) rs561343926 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.1292C>T (p.Pro431Leu) rs151107837 0.00003
NM_001182.5(ALDH7A1):c.664A>G (p.Thr222Ala) rs777829351 0.00003
NM_001182.5(ALDH7A1):c.1004G>A (p.Arg335Gln) rs754449549 0.00002
NM_001182.5(ALDH7A1):c.1411_1412insG (p.Leu471fs) rs772766995 0.00002
NM_001182.5(ALDH7A1):c.1061A>G (p.Tyr354Cys) rs1471249688 0.00001
NM_001182.5(ALDH7A1):c.1111C>T (p.Pro371Ser) rs1045606047 0.00001
NM_001182.5(ALDH7A1):c.1232C>T (p.Pro411Leu) rs780233639 0.00001
NM_001182.5(ALDH7A1):c.1376T>C (p.Ile459Thr) rs1057518529 0.00001
NM_001182.5(ALDH7A1):c.1547A>G (p.Tyr516Cys) rs200102503 0.00001
NM_001182.5(ALDH7A1):c.1565+1G>T rs1064793830 0.00001
NM_001182.5(ALDH7A1):c.246+1G>A rs764588746 0.00001
NM_001182.5(ALDH7A1):c.312+1G>A rs199497486 0.00001
NM_001182.5(ALDH7A1):c.575C>T (p.Thr192Met) rs376917645 0.00001
NM_001182.5(ALDH7A1):c.607T>G (p.Trp203Gly) rs555896752 0.00001
NC_000005.9:g.(?_125880657)_(125882101_?)del
NC_000005.9:g.(?_125881996)_(125882111_?)dup
NC_000005.9:g.(?_125896755)_(125896836_?)del
NC_000005.9:g.(?_125904022)_(125905143_?)del
NM_001182.5(ALDH7A1):c.1171G>T (p.Glu391Ter)
NM_001182.5(ALDH7A1):c.1192G>A (p.Gly398Arg) rs1347421419
NM_001182.5(ALDH7A1):c.1235C>T (p.Thr412Ile) rs1471604421
NM_001182.5(ALDH7A1):c.1301A>G (p.Tyr434Cys) rs747597620
NM_001182.5(ALDH7A1):c.1301_1302del (p.Tyr434fs) rs753671880
NM_001182.5(ALDH7A1):c.1318-1G>C rs1258470290
NM_001182.5(ALDH7A1):c.1375A>T (p.Ile459Phe) rs186558364
NM_001182.5(ALDH7A1):c.1408T>G (p.Trp470Gly)
NM_001182.5(ALDH7A1):c.1410G>A (p.Trp470Ter) rs1581357507
NM_001182.5(ALDH7A1):c.1435G>A (p.Gly479Ser)
NM_001182.5(ALDH7A1):c.1439T>C (p.Ile480Thr) rs886059849
NM_001182.5(ALDH7A1):c.1442T>A (p.Val481Glu) rs144701796
NM_001182.5(ALDH7A1):c.1481G>C (p.Gly494Ala)
NM_001182.5(ALDH7A1):c.1483G>A (p.Ala495Thr) rs1749930972
NM_001182.5(ALDH7A1):c.1490-1G>A
NM_001182.5(ALDH7A1):c.1548C>A (p.Tyr516Ter)
NM_001182.5(ALDH7A1):c.1551G>A (p.Met517Ile) rs1064794774
NM_001182.5(ALDH7A1):c.1574A>G (p.Asn525Ser)
NM_001182.5(ALDH7A1):c.1578_1582del (p.Tyr526_Lys528delinsTer)
NM_001182.5(ALDH7A1):c.1597del (p.Ala533fs) rs387906574
NM_001182.5(ALDH7A1):c.187G>T (p.Gly63Ter) rs760636660
NM_001182.5(ALDH7A1):c.192G>C (p.Glu64Asp) rs1581409051
NM_001182.5(ALDH7A1):c.247-1G>C rs1060502949
NM_001182.5(ALDH7A1):c.263_264del (p.Asp87_Tyr88insTer)
NM_001182.5(ALDH7A1):c.285_286insG (p.Arg96fs) rs758414053
NM_001182.5(ALDH7A1):c.316C>A (p.Pro106Thr)
NM_001182.5(ALDH7A1):c.328C>G (p.Arg110Gly) rs121912708
NM_001182.5(ALDH7A1):c.365G>A (p.Arg122Gln) rs796052256
NM_001182.5(ALDH7A1):c.393+1G>A rs2112804344
NM_001182.5(ALDH7A1):c.394-1G>C rs1064794053
NM_001182.5(ALDH7A1):c.394-2A>G rs1450133957
NM_001182.5(ALDH7A1):c.39_192+517del
NM_001182.5(ALDH7A1):c.427G>C (p.Gly143Arg)
NM_001182.5(ALDH7A1):c.428G>C (p.Gly143Ala)
NM_001182.5(ALDH7A1):c.467A>G (p.Tyr156Cys) rs2112802725
NM_001182.5(ALDH7A1):c.494G>T (p.Gly165Val) rs375491094
NM_001182.5(ALDH7A1):c.517+5G>A
NM_001182.5(ALDH7A1):c.518-14_518delinsCA
NM_001182.5(ALDH7A1):c.518-2A>G
NM_001182.5(ALDH7A1):c.545G>A (p.Trp182Ter) rs1554100454
NM_001182.5(ALDH7A1):c.566G>A (p.Gly189Glu) rs1751004098
NM_001182.5(ALDH7A1):c.571A>G (p.Ile191Val) rs1060499755
NM_001182.5(ALDH7A1):c.586T>A (p.Phe196Ile)
NM_001182.5(ALDH7A1):c.5G>A (p.Trp2Ter) rs1554101995
NM_001182.5(ALDH7A1):c.632G>T (p.Cys211Phe) rs1131691976
NM_001182.5(ALDH7A1):c.651-2A>G
NM_001182.5(ALDH7A1):c.697ATA[3] (p.Ile234_Ala235insIle)
NM_001182.5(ALDH7A1):c.76_82del (p.Ala26fs) rs1373022366
NM_001182.5(ALDH7A1):c.773+5G>A rs1131691580
NM_001182.5(ALDH7A1):c.774-2A>G
NM_001182.5(ALDH7A1):c.826A>C (p.Thr276Pro) rs796052260
NM_001182.5(ALDH7A1):c.859C>T (p.Gln287Ter) rs1204010423
NM_001182.5(ALDH7A1):c.872-1G>T
NM_001182.5(ALDH7A1):c.898A>G (p.Asn300Asp) rs1750388096
NM_001182.5(ALDH7A1):c.902A>G (p.Asn301Ser) rs121912711
NM_001182.5(ALDH7A1):c.914-2A>C rs1581368665
NM_001182.5(ALDH7A1):c.916T>A (p.Phe306Ile) rs2112768468
NM_001182.5(ALDH7A1):c.973A>G (p.Thr325Ala) rs2112768333
NM_001182.5(ALDH7A1):c.979G>A (p.Gly327Ser) rs1554099008
NM_001182.5(ALDH7A1):c.983A>G (p.Gln328Arg)
NM_001182.5(ALDH7A1):c.985A>T (p.Arg329Trp)
NM_001182.5(ALDH7A1):c.986G>C (p.Arg329Thr)
NM_001182.5(ALDH7A1):c.987G>T (p.Arg329Ser) rs761295869
NM_001182.5(ALDH7A1):c.992C>A (p.Thr331Asn)

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