ClinVar Miner

List of variants reported as uncertain significance for hyperprolinemia type 2 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
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.1137C>T (p.Asp379=) rs140704780 0.00022
NM_003748.4(ALDH4A1):c.1055C>T (p.Ser352Leu) rs137852937 0.00014
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.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.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.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.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.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.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
NC_000001.10:g.(?_19199319)_(19204126_?)dup
NC_000001.10:g.(?_19199339)_(22987879_?)dup
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.1093A>C (p.Lys365Gln) rs770756077
NM_003748.4(ALDH4A1):c.1134C>T (p.Gly378=)
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.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.1A>G (p.Met1Val)
NM_003748.4(ALDH4A1):c.239A>G (p.Tyr80Cys)
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.43C>G (p.Arg15Gly) rs2100625391
NM_003748.4(ALDH4A1):c.43C>T (p.Arg15Cys)
NM_003748.4(ALDH4A1):c.479T>C (p.Ile160Thr)
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.712G>A (p.Ala238Thr)
NM_003748.4(ALDH4A1):c.740G>A (p.Arg247His) rs558761793
NM_003748.4(ALDH4A1):c.842G>T (p.Gly281Val) rs1934975074
NM_003748.4(ALDH4A1):c.994G>A (p.Val332Met) rs767652523

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