ClinVar Miner

List of variants reported as uncertain significance for hyperprolinemia type 2

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 143
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HGVS dbSNP gnomAD frequency
NM_003748.4(ALDH4A1):c.1583C>A (p.Thr528Asn) rs61757683 0.01760
NM_003748.4(ALDH4A1):c.*272C>T rs41273171 0.01547
NM_003748.4(ALDH4A1):c.*1040C>T rs76525996 0.00915
NM_003748.4(ALDH4A1):c.*1173C>T rs115664776 0.00723
NM_003748.4(ALDH4A1):c.678+3G>A rs138788183 0.00516
NM_003748.4(ALDH4A1):c.1218C>T (p.His406=) rs111291014 0.00488
NM_003748.4(ALDH4A1):c.648C>T (p.Gly216=) rs139340058 0.00417
NM_003748.4(ALDH4A1):c.*1197C>G rs7419135 0.00402
NM_003748.4(ALDH4A1):c.*122T>C rs2230712 0.00383
NM_003748.4(ALDH4A1):c.*711C>G rs543972561 0.00319
NM_003748.4(ALDH4A1):c.1185+10G>A rs201079601 0.00301
NM_003748.4(ALDH4A1):c.228G>A (p.Ser76=) rs145686117 0.00250
NM_003748.4(ALDH4A1):c.413C>T (p.Pro138Leu) rs139640415 0.00249
NM_003748.4(ALDH4A1):c.*9C>T rs138534161 0.00217
NM_003748.4(ALDH4A1):c.244G>A (p.Val82Met) rs76762510 0.00197
NM_003748.4(ALDH4A1):c.*189G>A rs11484737 0.00161
NM_003748.4(ALDH4A1):c.298-14C>T rs201072479 0.00149
NM_003748.4(ALDH4A1):c.1096G>A (p.Gly366Arg) rs41306567 0.00133
NM_003748.4(ALDH4A1):c.102C>T (p.Asn34=) rs148778436 0.00124
NM_003748.4(ALDH4A1):c.135T>G (p.Pro45=) rs147154947 0.00116
NM_003748.4(ALDH4A1):c.1261T>C (p.Cys421Arg) rs149414160 0.00089
NM_003748.4(ALDH4A1):c.199G>A (p.Val67Met) rs141327098 0.00070
NM_003748.4(ALDH4A1):c.369C>G (p.Asp123Glu) rs147600006 0.00065
NM_003748.4(ALDH4A1):c.*367C>T rs142571888 0.00063
NM_003748.4(ALDH4A1):c.767C>G (p.Pro256Arg) rs143835001 0.00048
NM_003748.4(ALDH4A1):c.*19C>T rs377545652 0.00046
NM_003748.4(ALDH4A1):c.-26G>T rs536547354 0.00045
NM_003748.4(ALDH4A1):c.1098G>A (p.Gly366=) rs147471420 0.00044
NM_003748.4(ALDH4A1):c.1073A>G (p.His358Arg) rs145243354 0.00034
NM_003748.4(ALDH4A1):c.1377G>C (p.Pro459=) rs146222625 0.00026
NM_003748.4(ALDH4A1):c.1137C>T (p.Asp379=) rs140704780 0.00022
NM_003748.4(ALDH4A1):c.150G>A (p.Leu50=) rs201605414 0.00019
NM_003748.4(ALDH4A1):c.*646G>A rs567528405 0.00017
NM_003748.4(ALDH4A1):c.1055C>T (p.Ser352Leu) rs137852937 0.00014
NM_003748.4(ALDH4A1):c.*464G>A rs536186688 0.00013
NM_003748.4(ALDH4A1):c.698A>G (p.Lys233Arg) rs376422570 0.00013
NM_003748.4(ALDH4A1):c.557T>C (p.Ile186Thr) rs375023861 0.00011
NM_003748.4(ALDH4A1):c.739C>T (p.Arg247Cys) rs748025331 0.00010
NM_003748.4(ALDH4A1):c.740G>T (p.Arg247Leu) rs558761793 0.00010
NM_003748.4(ALDH4A1):c.-24G>A rs886045707 0.00009
NM_003748.4(ALDH4A1):c.487G>A (p.Ala163Thr) rs201780333 0.00009
NM_003748.4(ALDH4A1):c.*719C>T rs778905588 0.00008
NM_003748.4(ALDH4A1):c.1381G>A (p.Asp461Asn) rs377270740 0.00008
NM_003748.4(ALDH4A1):c.490G>C (p.Ala164Pro) rs369957092 0.00007
NM_003748.4(ALDH4A1):c.*1182G>C rs956296596 0.00006
NM_003748.4(ALDH4A1):c.*223G>A rs553318512 0.00006
NM_003748.4(ALDH4A1):c.*900G>C rs796989099 0.00006
NM_003748.4(ALDH4A1):c.1082G>C (p.Trp361Ser) rs763793413 0.00006
NM_003748.4(ALDH4A1):c.178C>T (p.Arg60Trp) rs139447728 0.00006
NM_003748.4(ALDH4A1):c.67C>T (p.Arg23Trp) rs778225599 0.00006
NM_003748.4(ALDH4A1):c.*1199A>C rs886045701 0.00005
NM_003748.4(ALDH4A1):c.1252G>C (p.Gly418Arg) rs148586081 0.00005
NM_003748.4(ALDH4A1):c.421G>A (p.Ala141Thr) rs377259750 0.00005
NM_003748.4(ALDH4A1):c.*944C>T rs886045703 0.00004
NM_003748.4(ALDH4A1):c.1186-11G>A rs375847104 0.00004
NM_003748.4(ALDH4A1):c.381C>G (p.Ile127Met) rs147348663 0.00004
NM_003748.4(ALDH4A1):c.1529C>G (p.Ser510Cys) rs760227262 0.00003
NM_003748.4(ALDH4A1):c.1625C>T (p.Thr542Met) rs771061582 0.00003
NM_003748.4(ALDH4A1):c.569C>T (p.Pro190Leu) rs757819366 0.00003
NM_003748.4(ALDH4A1):c.1195C>T (p.Arg399Cys) rs138308070 0.00002
NM_003748.4(ALDH4A1):c.1632G>A (p.Pro544=) rs759926379 0.00002
NM_003748.4(ALDH4A1):c.361A>G (p.Ile121Val) rs779876883 0.00002
NM_003748.4(ALDH4A1):c.415C>T (p.Arg139Cys) rs942019101 0.00002
NM_003748.4(ALDH4A1):c.679-6G>A rs369992538 0.00002
NM_003748.4(ALDH4A1):c.749G>A (p.Arg250Gln) rs758064983 0.00002
NM_003748.4(ALDH4A1):c.759C>T (p.Gly253=) rs535815477 0.00002
NM_003748.4(ALDH4A1):c.*1041G>A rs1371841928 0.00001
NM_003748.4(ALDH4A1):c.*1152G>T rs886045702 0.00001
NM_003748.4(ALDH4A1):c.*690G>A rs886045704 0.00001
NM_003748.4(ALDH4A1):c.1185+4C>T rs746106042 0.00001
NM_003748.4(ALDH4A1):c.1240A>G (p.Thr414Ala) rs746859503 0.00001
NM_003748.4(ALDH4A1):c.1369G>A (p.Val457Ile) rs199828375 0.00001
NM_003748.4(ALDH4A1):c.1439G>A (p.Gly480Glu) rs762708368 0.00001
NM_003748.4(ALDH4A1):c.157-14G>A rs904113931 0.00001
NM_003748.4(ALDH4A1):c.1580-5C>T rs777379037 0.00001
NM_003748.4(ALDH4A1):c.16C>T (p.Pro6Ser) rs1212781668 0.00001
NM_003748.4(ALDH4A1):c.208G>A (p.Asp70Asn) rs1319600530 0.00001
NM_003748.4(ALDH4A1):c.337C>T (p.Arg113Trp) rs142923662 0.00001
NM_003748.4(ALDH4A1):c.338G>A (p.Arg113Gln) rs371321697 0.00001
NM_003748.4(ALDH4A1):c.362T>C (p.Ile121Thr) rs758188756 0.00001
NM_003748.4(ALDH4A1):c.512G>A (p.Arg171Gln) rs767459105 0.00001
NM_003748.4(ALDH4A1):c.593G>A (p.Arg198Gln) rs752816518 0.00001
NM_003748.4(ALDH4A1):c.659C>T (p.Ala220Val) rs199643601 0.00001
NM_003748.4(ALDH4A1):c.874A>C (p.Lys292Gln) rs746880995 0.00001
NM_003748.4(ALDH4A1):c.876A>G (p.Lys292=) rs775591571 0.00001
NM_003748.4(ALDH4A1):c.974G>A (p.Arg325His) rs1272594909 0.00001
NC_000001.10:g.(?_19199319)_(19204126_?)dup
NC_000001.10:g.(?_19199339)_(22987879_?)dup
NM_003748.4(ALDH4A1):c.*210C>A rs886045705
NM_003748.4(ALDH4A1):c.*776C>T rs1034579513
NM_003748.4(ALDH4A1):c.1048G>T (p.Ala350Ser)
NM_003748.4(ALDH4A1):c.1060C>T (p.Leu354Phe) rs766376495
NM_003748.4(ALDH4A1):c.1070C>T (p.Pro357Leu) rs758300845
NM_003748.4(ALDH4A1):c.1085C>A (p.Pro362Gln)
NM_003748.4(ALDH4A1):c.1086G>C (p.Pro362=) rs41310410
NM_003748.4(ALDH4A1):c.1093A>C (p.Lys365Gln) rs770756077
NM_003748.4(ALDH4A1):c.1099C>T (p.Arg367Trp) rs562344368
NM_003748.4(ALDH4A1):c.1134C>T (p.Gly378=)
NM_003748.4(ALDH4A1):c.1196G>A (p.Arg399His) rs749555399
NM_003748.4(ALDH4A1):c.1212G>A (p.Leu404=) rs1934687903
NM_003748.4(ALDH4A1):c.1219G>T (p.Ala407Ser)
NM_003748.4(ALDH4A1):c.1236C>A (p.Ser412Arg)
NM_003748.4(ALDH4A1):c.1236C>G (p.Ser412Arg) rs201762741
NM_003748.4(ALDH4A1):c.1265A>G (p.Asp422Gly)
NM_003748.4(ALDH4A1):c.12_17del (p.4PA[1]) rs768891033
NM_003748.4(ALDH4A1):c.1314C>A (p.Asp438Glu) rs1330438587
NM_003748.4(ALDH4A1):c.1348G>A (p.Gly450Arg) rs1156594126
NM_003748.4(ALDH4A1):c.1379_1380delinsGC (p.Asp460Gly)
NM_003748.4(ALDH4A1):c.1435A>T (p.Thr479Ser) rs2100553228
NM_003748.4(ALDH4A1):c.1460+15C>T rs371777923
NM_003748.4(ALDH4A1):c.1504G>A (p.Gly502Ser) rs766982473
NM_003748.4(ALDH4A1):c.1547G>A (p.Gly516Asp)
NM_003748.4(ALDH4A1):c.156+6G>A
NM_003748.4(ALDH4A1):c.1571G>A (p.Arg524Gln)
NM_003748.4(ALDH4A1):c.1596del (p.Gly534fs) rs2100546996
NM_003748.4(ALDH4A1):c.1618C>T (p.Arg540Cys)
NM_003748.4(ALDH4A1):c.1624A>G (p.Thr542Ala) rs1934507704
NM_003748.4(ALDH4A1):c.1678G>A (p.Ala560Thr) rs776207072
NM_003748.4(ALDH4A1):c.1681T>A (p.Tyr561Asn) rs528211463
NM_003748.4(ALDH4A1):c.198C>T (p.Cys66=) rs1469638231
NM_003748.4(ALDH4A1):c.1A>G (p.Met1Val)
NM_003748.4(ALDH4A1):c.239A>G (p.Tyr80Cys)
NM_003748.4(ALDH4A1):c.250-6T>A rs1935208824
NM_003748.4(ALDH4A1):c.341A>C (p.Lys114Thr) rs1389602525
NM_003748.4(ALDH4A1):c.353T>C (p.Leu118Pro)
NM_003748.4(ALDH4A1):c.377A>G (p.Gln126Arg) rs1935165464
NM_003748.4(ALDH4A1):c.397G>T (p.Asp133Tyr) rs1935164061
NM_003748.4(ALDH4A1):c.416G>T (p.Arg139Leu) rs368241243
NM_003748.4(ALDH4A1):c.43C>G (p.Arg15Gly) rs2100625391
NM_003748.4(ALDH4A1):c.43C>T (p.Arg15Cys)
NM_003748.4(ALDH4A1):c.446T>A (p.Val149Glu) rs886045706
NM_003748.4(ALDH4A1):c.479T>C (p.Ile160Thr)
NM_003748.4(ALDH4A1):c.484G>A (p.Ala162Thr)
NM_003748.4(ALDH4A1):c.514T>C (p.Phe172Leu)
NM_003748.4(ALDH4A1):c.596G>C (p.Gly199Ala)
NM_003748.4(ALDH4A1):c.59C>A (p.Ala20Asp) rs1935834310
NM_003748.4(ALDH4A1):c.658G>C (p.Ala220Pro) rs778113718
NM_003748.4(ALDH4A1):c.712G>A (p.Ala238Thr)
NM_003748.4(ALDH4A1):c.740G>A (p.Arg247His) rs558761793
NM_003748.4(ALDH4A1):c.800C>A (p.Pro267His) rs141843191
NM_003748.4(ALDH4A1):c.842G>T (p.Gly281Val) rs1934975074
NM_003748.4(ALDH4A1):c.866+1G>A rs78532707
NM_003748.4(ALDH4A1):c.994G>A (p.Val332Met) rs767652523

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