ClinVar Miner

List of variants studied for hyperprolinemia type 2 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 177
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HGVS dbSNP gnomAD frequency
NM_003748.4(ALDH4A1):c.1050G>C (p.Ala350=) rs2230705 0.71986
NM_003748.4(ALDH4A1):c.1380T>C (p.Asp460=) rs2230708 0.71129
NM_003748.4(ALDH4A1):c.1230A>G (p.Ser410=) rs7550938 0.63458
NM_003748.4(ALDH4A1):c.1221A>G (p.Ala407=) rs2230706 0.63390
NM_003748.4(ALDH4A1):c.1251C>T (p.Ala417=) rs2230707 0.47295
NM_003748.4(ALDH4A1):c.1408G>A (p.Val470Ile) rs2230709 0.11004
NM_003748.4(ALDH4A1):c.1417A>G (p.Thr473Ala) rs6695033 0.06532
NM_003748.4(ALDH4A1):c.1548C>T (p.Gly516=) rs61749348 0.06385
NM_003748.4(ALDH4A1):c.250-17C>T rs9426718 0.03729
NM_003748.4(ALDH4A1):c.47C>T (p.Pro16Leu) rs146450609 0.02500
NM_003748.4(ALDH4A1):c.744C>T (p.Ile248=) rs60427141 0.01815
NM_003748.4(ALDH4A1):c.1583C>A (p.Thr528Asn) rs61757683 0.01760
NM_003748.4(ALDH4A1):c.603+14G>A rs79637190 0.01743
NM_003748.4(ALDH4A1):c.1631C>T (p.Pro544Leu) rs72953172 0.01344
NM_003748.4(ALDH4A1):c.1162T>C (p.Phe388Leu) rs41273175 0.01334
NM_003748.4(ALDH4A1):c.584C>T (p.Thr195Met) rs72936434 0.00992
NM_003748.4(ALDH4A1):c.433G>A (p.Ala145Thr) rs113846237 0.00952
NM_003748.4(ALDH4A1):c.453+19C>T rs201900829 0.00609
NM_003748.4(ALDH4A1):c.678+3G>A rs138788183 0.00516
NM_003748.4(ALDH4A1):c.225G>A (p.Thr75=) rs79920636 0.00496
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.453+17C>T rs200675281 0.00367
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.1385A>C (p.Lys462Thr) rs150762865 0.00217
NM_003748.4(ALDH4A1):c.244G>A (p.Val82Met) rs76762510 0.00197
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.767C>G (p.Pro256Arg) rs143835001 0.00048
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.483C>T (p.Asp161=) rs182240222 0.00028
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.1579+11C>T rs367612554 0.00019
NM_003748.4(ALDH4A1):c.1055C>T (p.Ser352Leu) rs137852937 0.00014
NM_003748.4(ALDH4A1):c.1138-20G>A rs574681452 0.00014
NM_003748.4(ALDH4A1):c.1650A>G (p.Thr550=) rs202214117 0.00013
NM_003748.4(ALDH4A1):c.698A>G (p.Lys233Arg) rs376422570 0.00013
NM_003748.4(ALDH4A1):c.1272C>T (p.Ser424=) rs370707645 0.00011
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.1677C>T (p.Tyr559=) rs531113108 0.00009
NM_003748.4(ALDH4A1):c.984C>T (p.Asp328=) rs146741343 0.00009
NM_003748.4(ALDH4A1):c.179G>A (p.Arg60Gln) rs114609576 0.00007
NM_003748.4(ALDH4A1):c.490G>C (p.Ala164Pro) rs369957092 0.00007
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.1252G>C (p.Gly418Arg) rs148586081 0.00005
NM_003748.4(ALDH4A1):c.454-18C>T rs557911088 0.00004
NM_003748.4(ALDH4A1):c.462C>T (p.Thr154=) rs372535998 0.00004
NM_003748.4(ALDH4A1):c.1467C>G (p.Val489=) rs377587520 0.00003
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.432C>T (p.Leu144=) rs781234955 0.00003
NM_003748.4(ALDH4A1):c.569C>T (p.Pro190Leu) rs757819366 0.00003
NM_003748.4(ALDH4A1):c.624G>A (p.Ser208=) rs142063145 0.00003
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.492G>A (p.Ala164=) rs757586223 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.108C>T (p.Pro36=) rs768297819 0.00001
NM_003748.4(ALDH4A1):c.1137+12C>T rs749404523 0.00001
NM_003748.4(ALDH4A1):c.1138-6C>T rs755890443 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.1439G>A (p.Gly480Glu) rs762708368 0.00001
NM_003748.4(ALDH4A1):c.1521C>T (p.Asn507=) rs757085430 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.453+20G>T rs1406816149 0.00001
NM_003748.4(ALDH4A1):c.501C>T (p.Ile167=) rs754269597 0.00001
NM_003748.4(ALDH4A1):c.512G>A (p.Arg171Gln) rs767459105 0.00001
NM_003748.4(ALDH4A1):c.531G>A (p.Ala177=) rs138847454 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.876A>G (p.Lys292=) rs775591571 0.00001
NM_003748.4(ALDH4A1):c.945C>T (p.Cys315=) rs774448725 0.00001
NC_000001.10:g.(?_19199319)_(19204126_?)dup
NC_000001.10:g.(?_19199339)_(19201095_?)del
NC_000001.10:g.(?_19199339)_(22987879_?)dup
NM_003748.4(ALDH4A1):c.1005G>C (p.Gly335=) rs751507625
NM_003748.4(ALDH4A1):c.1005G>T (p.Gly335=)
NM_003748.4(ALDH4A1):c.1023C>T (p.Phe341=) rs769491686
NM_003748.4(ALDH4A1):c.1048G>T (p.Ala350Ser)
NM_003748.4(ALDH4A1):c.1053C>T (p.Cys351=) rs1934758933
NM_003748.4(ALDH4A1):c.105G>A (p.Glu35=)
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>A (p.Pro362=) rs41310410
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.1134C>T (p.Gly378=)
NM_003748.4(ALDH4A1):c.1137+13G>A
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.1239C>T (p.Leu413=)
NM_003748.4(ALDH4A1):c.123G>A (p.Thr41=)
NM_003748.4(ALDH4A1):c.1265A>G (p.Asp422Gly)
NM_003748.4(ALDH4A1):c.1281C>T (p.Tyr427=)
NM_003748.4(ALDH4A1):c.1299C>T (p.Ile433=)
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.1338+19C>T
NM_003748.4(ALDH4A1):c.1338+7G>A rs2100555545
NM_003748.4(ALDH4A1):c.1339-12C>T
NM_003748.4(ALDH4A1):c.1348G>A (p.Gly450Arg) rs1156594126
NM_003748.4(ALDH4A1):c.1368C>T (p.Tyr456=)
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.1460+16G>C
NM_003748.4(ALDH4A1):c.1461-12T>C rs2100551089
NM_003748.4(ALDH4A1):c.1464C>T (p.Asp488=)
NM_003748.4(ALDH4A1):c.1479C>T (p.Ala493=)
NM_003748.4(ALDH4A1):c.1503C>T (p.Ala501=)
NM_003748.4(ALDH4A1):c.1504G>A (p.Gly502Ser) rs766982473
NM_003748.4(ALDH4A1):c.1547G>A (p.Gly516Asp)
NM_003748.4(ALDH4A1):c.1551G>A (p.Gln517=)
NM_003748.4(ALDH4A1):c.156+6G>A
NM_003748.4(ALDH4A1):c.1563G>C (p.Gly521=)
NM_003748.4(ALDH4A1):c.1571G>A (p.Arg524Gln)
NM_003748.4(ALDH4A1):c.1580-16del rs767610565
NM_003748.4(ALDH4A1):c.1596del (p.Gly534fs) rs2100546996
NM_003748.4(ALDH4A1):c.1602C>T (p.Gly534=)
NM_003748.4(ALDH4A1):c.1618C>T (p.Arg540Cys)
NM_003748.4(ALDH4A1):c.1641C>T (p.Ile547=)
NM_003748.4(ALDH4A1):c.1674C>T (p.Ser558=)
NM_003748.4(ALDH4A1):c.1A>G (p.Met1Val)
NM_003748.4(ALDH4A1):c.239A>G (p.Tyr80Cys)
NM_003748.4(ALDH4A1):c.298-1G>C rs1557620472
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.385C>T (p.Leu129=) rs1371117699
NM_003748.4(ALDH4A1):c.414G>A (p.Pro138=)
NM_003748.4(ALDH4A1):c.42C>G (p.Ser14=)
NM_003748.4(ALDH4A1):c.43C>G (p.Arg15Gly) rs2100625391
NM_003748.4(ALDH4A1):c.43C>T (p.Arg15Cys)
NM_003748.4(ALDH4A1):c.453+16G>C
NM_003748.4(ALDH4A1):c.454-17G>A
NM_003748.4(ALDH4A1):c.479T>C (p.Ile160Thr)
NM_003748.4(ALDH4A1):c.514T>C (p.Phe172Leu)
NM_003748.4(ALDH4A1):c.561C>T (p.Ser187=)
NM_003748.4(ALDH4A1):c.596G>C (p.Gly199Ala)
NM_003748.4(ALDH4A1):c.59C>A (p.Ala20Asp) rs1935834310
NM_003748.4(ALDH4A1):c.604-18C>T
NM_003748.4(ALDH4A1):c.615G>C (p.Ala205=)
NM_003748.4(ALDH4A1):c.645C>T (p.Ile215=)
NM_003748.4(ALDH4A1):c.684C>T (p.Asn228=)
NM_003748.4(ALDH4A1):c.693A>G (p.Leu231=) rs775893554
NM_003748.4(ALDH4A1):c.699G>A (p.Lys233=) rs1474346608
NM_003748.4(ALDH4A1):c.712G>A (p.Ala238Thr)
NM_003748.4(ALDH4A1):c.740G>A (p.Arg247His) rs558761793
NM_003748.4(ALDH4A1):c.828A>T (p.Ser276=)
NM_003748.4(ALDH4A1):c.842G>T (p.Gly281Val) rs1934975074
NM_003748.4(ALDH4A1):c.866+1G>A rs78532707
NM_003748.4(ALDH4A1):c.88C>T (p.Leu30=)
NM_003748.4(ALDH4A1):c.903C>T (p.Asn301=)
NM_003748.4(ALDH4A1):c.940+16C>T
NM_003748.4(ALDH4A1):c.994G>A (p.Val332Met) rs767652523

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