ClinVar Miner

List of variants in gene ALDH7A1 studied for not specified

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Gene type:
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Total variants: 78
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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_001182.4(ALDH7A1):c.-60G>A rs144272515 0.03685
NM_001182.5(ALDH7A1):c.518-12T>G rs79544459 0.03492
NM_001182.5(ALDH7A1):c.675C>T (p.Leu225=) rs57902950 0.01833
NM_001182.5(ALDH7A1):c.1094-20C>G rs113775968 0.00586
NM_001182.5(ALDH7A1):c.1009-6G>A rs138056453 0.00500
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684 0.00449
NM_001182.4(ALDH7A1):c.-34G>C rs140627539 0.00261
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_001182.4(ALDH7A1):c.-29T>C rs556650006 0.00100
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.774-18G>A rs185333013 0.00043
NM_001182.5(ALDH7A1):c.615C>T (p.Asn205=) rs369380330 0.00042
NM_001182.5(ALDH7A1):c.858G>A (p.Val286=) rs150623275 0.00028
NM_001182.5(ALDH7A1):c.39A>G (p.Ala13=) rs201566142 0.00020
NM_001182.5(ALDH7A1):c.193-20C>T rs199762757 0.00018
NM_001182.5(ALDH7A1):c.393+15T>C rs183254966 0.00016
NM_001182.5(ALDH7A1):c.1416-11T>C rs577675361 0.00015
NM_001182.5(ALDH7A1):c.1263G>A (p.Ala421=) rs587780850 0.00011
NM_001182.5(ALDH7A1):c.1287T>C (p.Phe429=) rs375030056 0.00010
NM_001182.5(ALDH7A1):c.1305C>G (p.Val435=) rs142975776 0.00010
NM_001182.5(ALDH7A1):c.774-19C>T rs373058643 0.00010
NM_001182.5(ALDH7A1):c.-13T>G rs774190967 0.00006
NM_001182.5(ALDH7A1):c.1150G>A (p.Ala384Thr) rs140947675 0.00006
NM_001182.5(ALDH7A1):c.529G>C (p.Ala177Pro) rs140102105 0.00006
NM_001182.5(ALDH7A1):c.913+8T>C rs766528289 0.00005
NM_001182.5(ALDH7A1):c.*5G>A rs759591318 0.00004
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.1415+13C>T rs776975478 0.00004
NM_001182.5(ALDH7A1):c.364C>T (p.Arg122Trp) rs370624118 0.00004
NM_001182.5(ALDH7A1):c.1317+19C>T rs368215460 0.00003
NM_001182.5(ALDH7A1):c.1318-16A>G rs879606419 0.00003
NM_001182.5(ALDH7A1):c.133C>T (p.Leu45=) rs757162735 0.00003
NM_001182.5(ALDH7A1):c.1489+4C>T rs775065938 0.00003
NM_001182.5(ALDH7A1):c.650+18T>C rs570318899 0.00003
NM_001182.5(ALDH7A1):c.998C>T (p.Ala333Val) rs144625212 0.00003
NM_001182.5(ALDH7A1):c.1233G>A (p.Pro411=) rs572831296 0.00002
NM_001182.5(ALDH7A1):c.1565+15T>C rs375505703 0.00002
NM_001182.4(ALDH7A1):c.-30C>T rs760633380 0.00001
NM_001182.5(ALDH7A1):c.-18C>G rs796052254 0.00001
NM_001182.5(ALDH7A1):c.1069A>G (p.Ile357Val) rs761011399 0.00001
NM_001182.5(ALDH7A1):c.1094-14T>G rs1057521816 0.00001
NM_001182.5(ALDH7A1):c.1094-4C>T rs977039138 0.00001
NM_001182.5(ALDH7A1):c.1201-5A>G rs753508557 0.00001
NM_001182.5(ALDH7A1):c.1376T>C (p.Ile459Thr) rs1057518529 0.00001
NM_001182.5(ALDH7A1):c.222C>T (p.Asn74=) rs1007871645 0.00001
NM_001182.5(ALDH7A1):c.393+12T>C rs1057522818 0.00001
NM_001182.5(ALDH7A1):c.450T>C (p.Tyr150=) rs375095250 0.00001
NM_001182.5(ALDH7A1):c.573C>T (p.Ile191=) rs1554100447 0.00001
NM_001182.5(ALDH7A1):c.651-19T>A rs1057521334 0.00001
NM_001182.5(ALDH7A1):c.696-3T>C rs749516893 0.00001
NM_001182.5(ALDH7A1):c.1009-14C>T rs1057520220
NM_001182.5(ALDH7A1):c.120G>A (p.Ala40=) rs1554101953
NM_001182.5(ALDH7A1):c.1301A>G (p.Tyr434Cys) rs747597620
NM_001182.5(ALDH7A1):c.1317+20G>A rs17597559
NM_001182.5(ALDH7A1):c.1317+20G>C rs17597559
NM_001182.5(ALDH7A1):c.1415+7C>T rs1057520741
NM_001182.5(ALDH7A1):c.1470T>C (p.Ala490=) rs1057520651
NM_001182.5(ALDH7A1):c.1490-7T>C rs1057522259
NM_001182.5(ALDH7A1):c.1548C>A (p.Tyr516Ter)
NM_001182.5(ALDH7A1):c.192+9G>A rs1554101934
NM_001182.5(ALDH7A1):c.1A>G (p.Met1Val)
NM_001182.5(ALDH7A1):c.201G>T (p.Thr67=) rs747643987
NM_001182.5(ALDH7A1):c.23T>C (p.Leu8Pro) rs796052255
NM_001182.5(ALDH7A1):c.313-15G>A rs201720741
NM_001182.5(ALDH7A1):c.31_33delinsGAG (p.His11Glu) rs796052269
NM_001182.5(ALDH7A1):c.50dup (p.Leu18fs) rs1444879414
NM_001182.5(ALDH7A1):c.561G>A (p.Leu187=) rs1057523720
NM_001182.5(ALDH7A1):c.650+15C>G rs773601863
NM_001182.5(ALDH7A1):c.771T>C (p.Ile257=) rs1057520469
NM_001182.5(ALDH7A1):c.826A>C (p.Thr276Pro) rs796052260
NM_001182.5(ALDH7A1):c.871+14T>A rs1554099737
NM_001182.5(ALDH7A1):c.902A>G (p.Asn301Ser) rs121912711
NM_001182.5(ALDH7A1):c.914-13G>C rs148928130

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