ClinVar Miner

List of variants reported as uncertain significance for hyperprolinemia type 2 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 75
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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.369C>G (p.Asp123Glu) rs147600006 0.00065
NM_003748.4(ALDH4A1):c.*367C>T rs142571888 0.00063
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.150G>A (p.Leu50=) rs201605414 0.00019
NM_003748.4(ALDH4A1):c.*646G>A rs567528405 0.00017
NM_003748.4(ALDH4A1):c.*464G>A rs536186688 0.00013
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.*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.1195C>T (p.Arg399Cys) rs138308070 0.00002
NM_003748.4(ALDH4A1):c.1632G>A (p.Pro544=) rs759926379 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.1369G>A (p.Val457Ile) rs199828375 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.362T>C (p.Ile121Thr) rs758188756 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
NM_003748.4(ALDH4A1):c.*210C>A rs886045705
NM_003748.4(ALDH4A1):c.*776C>T rs1034579513
NM_003748.4(ALDH4A1):c.1086G>C (p.Pro362=) rs41310410
NM_003748.4(ALDH4A1):c.1099C>T (p.Arg367Trp) rs562344368
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.1460+15C>T rs371777923
NM_003748.4(ALDH4A1):c.1571G>A (p.Arg524Gln)
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.250-6T>A rs1935208824
NM_003748.4(ALDH4A1):c.397G>T (p.Asp133Tyr) rs1935164061
NM_003748.4(ALDH4A1):c.446T>A (p.Val149Glu) rs886045706
NM_003748.4(ALDH4A1):c.800C>A (p.Pro267His) rs141843191
NM_003748.4(ALDH4A1):c.866+1G>A rs78532707

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