ClinVar Miner

List of variants reported as uncertain significance for peroxisome biogenesis disorder 13A (Zellweger) by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 183
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HGVS dbSNP gnomAD frequency
NM_004565.3(PEX14):c.474C>A (p.Ser158Arg) rs145867351 0.00057
NM_004565.3(PEX14):c.416G>A (p.Arg139Gln) rs147683525 0.00029
NM_004565.3(PEX14):c.451G>A (p.Gly151Ser) rs145888212 0.00028
NM_004565.3(PEX14):c.18G>C (p.Gln6His) rs200395336 0.00019
NM_004565.3(PEX14):c.818C>T (p.Ser273Leu) rs149801951 0.00011
NM_004565.3(PEX14):c.884C>A (p.Pro295His) rs545357144 0.00008
NM_004565.3(PEX14):c.274C>G (p.Pro92Ala) rs199525137 0.00006
NM_004565.3(PEX14):c.577G>A (p.Ala193Thr) rs369625174 0.00006
NM_004565.3(PEX14):c.517G>T (p.Val173Phe) rs200019568 0.00005
NM_004565.3(PEX14):c.84G>A (p.Leu28=) rs551147900 0.00005
NM_004565.3(PEX14):c.990G>T (p.Glu330Asp) rs145761201 0.00005
NM_004565.3(PEX14):c.112A>G (p.Asn38Asp) rs940853094 0.00004
NM_004565.3(PEX14):c.320G>A (p.Arg107Gln) rs774125017 0.00004
NM_004565.3(PEX14):c.412G>A (p.Gly138Ser) rs376462571 0.00004
NM_004565.3(PEX14):c.860C>T (p.Thr287Met) rs376758920 0.00004
NM_004565.3(PEX14):c.1112G>A (p.Ser371Asn) rs1029768863 0.00003
NM_004565.3(PEX14):c.1126C>T (p.Arg376Trp) rs765354583 0.00003
NM_004565.3(PEX14):c.118C>T (p.Arg40Trp) rs770183471 0.00003
NM_004565.3(PEX14):c.304G>A (p.Ala102Thr) rs753731034 0.00003
NM_004565.3(PEX14):c.824C>T (p.Ser275Leu) rs727504081 0.00003
NM_004565.3(PEX14):c.14A>G (p.Glu5Gly) rs932921080 0.00002
NM_004565.3(PEX14):c.163A>C (p.Lys55Gln) rs753472251 0.00002
NM_004565.3(PEX14):c.328G>A (p.Gly110Ser) rs771702217 0.00002
NM_004565.3(PEX14):c.568G>A (p.Glu190Lys) rs144362955 0.00002
NM_004565.3(PEX14):c.931A>T (p.Met311Leu) rs761789278 0.00002
NM_004565.3(PEX14):c.1036C>A (p.Gln346Lys) rs773295464 0.00001
NM_004565.3(PEX14):c.1052G>A (p.Arg351Gln) rs960056444 0.00001
NM_004565.3(PEX14):c.1081G>A (p.Val361Met) rs1041756834 0.00001
NM_004565.3(PEX14):c.1119G>C (p.Glu373Asp) rs769581556 0.00001
NM_004565.3(PEX14):c.1121G>A (p.Ser374Asn) rs1305475145 0.00001
NM_004565.3(PEX14):c.124C>T (p.Arg42Cys) rs540190684 0.00001
NM_004565.3(PEX14):c.188T>C (p.Ile63Thr) rs762505617 0.00001
NM_004565.3(PEX14):c.190G>A (p.Asp64Asn) rs535743906 0.00001
NM_004565.3(PEX14):c.199T>C (p.Phe67Leu) rs751540499 0.00001
NM_004565.3(PEX14):c.19G>A (p.Ala7Thr) rs1410701421 0.00001
NM_004565.3(PEX14):c.233C>T (p.Ser78Leu) rs778315559 0.00001
NM_004565.3(PEX14):c.245C>T (p.Pro82Leu) rs1640918494 0.00001
NM_004565.3(PEX14):c.259G>A (p.Val87Ile) rs148365356 0.00001
NM_004565.3(PEX14):c.311C>T (p.Ser104Phe) rs756523143 0.00001
NM_004565.3(PEX14):c.314G>A (p.Arg105Gln) rs754085368 0.00001
NM_004565.3(PEX14):c.31A>G (p.Ser11Gly) rs896802943 0.00001
NM_004565.3(PEX14):c.331G>A (p.Ala111Thr) rs758492014 0.00001
NM_004565.3(PEX14):c.356T>C (p.Ile119Thr) rs1210554647 0.00001
NM_004565.3(PEX14):c.36+6G>T rs369035854 0.00001
NM_004565.3(PEX14):c.382A>G (p.Lys128Glu) rs756676436 0.00001
NM_004565.3(PEX14):c.413G>A (p.Gly138Asp) rs1641640630 0.00001
NM_004565.3(PEX14):c.41G>A (p.Ser14Asn) rs1641538447 0.00001
NM_004565.3(PEX14):c.44C>G (p.Ser15Cys) rs755705743 0.00001
NM_004565.3(PEX14):c.511G>A (p.Ala171Thr) rs1330745700 0.00001
NM_004565.3(PEX14):c.556G>C (p.Glu186Gln) rs543130270 0.00001
NM_004565.3(PEX14):c.585+19C>T rs1159229053 0.00001
NM_004565.3(PEX14):c.626T>C (p.Ile209Thr) rs758355392 0.00001
NM_004565.3(PEX14):c.643G>A (p.Glu215Lys) rs1370410030 0.00001
NM_004565.3(PEX14):c.646A>C (p.Ile216Leu) rs898010278 0.00001
NM_004565.3(PEX14):c.648T>G (p.Ile216Met) rs756446450 0.00001
NM_004565.3(PEX14):c.74G>A (p.Arg25Gln) rs1479023779 0.00001
NM_004565.3(PEX14):c.767T>C (p.Val256Ala) rs1352067314 0.00001
NM_004565.3(PEX14):c.77A>G (p.Glu26Gly) rs1407518602 0.00001
NM_004565.3(PEX14):c.815C>T (p.Thr272Met) rs746192184 0.00001
NM_004565.3(PEX14):c.850G>A (p.Glu284Lys) rs763093176 0.00001
NM_004565.3(PEX14):c.856T>C (p.Ser286Pro) rs1227234692 0.00001
NM_004565.3(PEX14):c.857C>T (p.Ser286Phe) rs1223454336 0.00001
NM_004565.3(PEX14):c.896G>A (p.Gly299Asp) rs140533305 0.00001
NM_004565.3(PEX14):c.902G>T (p.Gly301Val) rs773005677 0.00001
NM_004565.3(PEX14):c.913G>A (p.Val305Ile) rs776350064 0.00001
NM_004565.3(PEX14):c.925G>T (p.Val309Leu) rs764272265 0.00001
NM_004565.3(PEX14):c.92C>T (p.Thr31Met) rs1570228034 0.00001
NC_000001.10:g.(?_10535024)_(10535079_?)dup
NC_000001.10:g.(?_10535024)_(10596374_?)dup
NC_000001.10:g.(?_10535024)_(11107264_?)dup
NC_000001.10:g.(?_10555311)_(10555398_?)dup
NC_000001.10:g.(?_10687309)_(10687440_?)del
NM_004565.2(PEX14):c.987_995dup (p.Asp331_Asp332insGluGluAsp) rs1318692969
NM_004565.3(PEX14):c.1000G>A (p.Val334Met) rs2124650794
NM_004565.3(PEX14):c.1008T>G (p.His336Gln) rs770817636
NM_004565.3(PEX14):c.1010T>C (p.Val337Ala) rs1258983860
NM_004565.3(PEX14):c.1015G>A (p.Glu339Lys) rs1570377732
NM_004565.3(PEX14):c.101A>G (p.Lys34Arg) rs2124482101
NM_004565.3(PEX14):c.1024_1047del (p.Cys342_Asp349del) rs749458457
NM_004565.3(PEX14):c.1025G>A (p.Cys342Tyr) rs774432688
NM_004565.3(PEX14):c.1030G>C (p.Gly344Arg) rs762029686
NM_004565.3(PEX14):c.1033G>A (p.Val345Met) rs1402699992
NM_004565.3(PEX14):c.1036C>G (p.Gln346Glu) rs773295464
NM_004565.3(PEX14):c.1048C>T (p.Arg350Cys) rs1641869464
NM_004565.3(PEX14):c.1051C>T (p.Arg351Trp) rs766959628
NM_004565.3(PEX14):c.1052G>C (p.Arg351Pro) rs960056444
NM_004565.3(PEX14):c.1057G>A (p.Gly353Arg) rs1641870710
NM_004565.3(PEX14):c.1093C>T (p.Arg365Trp) rs904521069
NM_004565.3(PEX14):c.1108G>T (p.Ala370Ser) rs1557443140
NM_004565.3(PEX14):c.1120A>C (p.Ser374Arg) rs2124651161
NM_004565.3(PEX14):c.1120_1121del (p.Glu373_Ser374insTer) rs2124651144
NM_004565.3(PEX14):c.1124A>C (p.Glu375Ala) rs1337084727
NM_004565.3(PEX14):c.119G>A (p.Arg40Gln) rs573113329
NM_004565.3(PEX14):c.133C>T (p.Pro45Ser) rs1374474122
NM_004565.3(PEX14):c.140C>A (p.Ala47Glu) rs2124482219
NM_004565.3(PEX14):c.154T>C (p.Phe52Leu) rs2124482255
NM_004565.3(PEX14):c.168A>G (p.Lys56=) rs2522862399
NM_004565.3(PEX14):c.169+4C>T rs2522862418
NM_004565.3(PEX14):c.16C>G (p.Gln6Glu) rs2522558079
NM_004565.3(PEX14):c.20C>T (p.Ala7Val) rs759852702
NM_004565.3(PEX14):c.229C>T (p.Pro77Ser) rs2521666240
NM_004565.3(PEX14):c.22G>C (p.Glu8Gln) rs2124356750
NM_004565.3(PEX14):c.236C>T (p.Ser79Phe) rs934417001
NM_004565.3(PEX14):c.247G>A (p.Ala83Thr) rs1557866347
NM_004565.3(PEX14):c.269A>G (p.Gln90Arg) rs1640919599
NM_004565.3(PEX14):c.26A>G (p.Gln9Arg) rs201979629
NM_004565.3(PEX14):c.271C>G (p.Pro91Ala) rs2124602763
NM_004565.3(PEX14):c.279C>A (p.His93Gln) rs1238733367
NM_004565.3(PEX14):c.281T>G (p.Leu94Arg) rs1640920550
NM_004565.3(PEX14):c.286T>G (p.Ser96Ala) rs2124602826
NM_004565.3(PEX14):c.28C>T (p.Pro10Ser) rs1007978005
NM_004565.3(PEX14):c.295T>C (p.Tyr99His) rs2124602853
NM_004565.3(PEX14):c.304G>T (p.Ala102Ser) rs753731034
NM_004565.3(PEX14):c.307G>A (p.Gly103Ser)
NM_004565.3(PEX14):c.31A>T (p.Ser11Cys) rs896802943
NM_004565.3(PEX14):c.32G>A (p.Ser11Asn) rs2124356828
NM_004565.3(PEX14):c.334C>G (p.Leu112Val) rs2521827423
NM_004565.3(PEX14):c.345C>G (p.Ile115Met) rs1641491330
NM_004565.3(PEX14):c.36+3A>G rs2124356856
NM_004565.3(PEX14):c.36+5G>A rs756953282
NM_004565.3(PEX14):c.36+5G>C
NM_004565.3(PEX14):c.370C>T (p.His124Tyr) rs1250012399
NM_004565.3(PEX14):c.395T>C (p.Leu132Pro) rs1553121467
NM_004565.3(PEX14):c.398C>G (p.Pro133Arg)
NM_004565.3(PEX14):c.416G>T (p.Arg139Leu) rs147683525
NM_004565.3(PEX14):c.419A>G (p.Glu140Gly)
NM_004565.3(PEX14):c.421G>A (p.Asp141Asn) rs1641641278
NM_004565.3(PEX14):c.425G>A (p.Arg142Lys) rs1641641457
NM_004565.3(PEX14):c.428A>G (p.Lys143Arg) rs2124639369
NM_004565.3(PEX14):c.442A>T (p.Met148Leu) rs2521867669
NM_004565.3(PEX14):c.460G>C (p.Glu154Gln)
NM_004565.3(PEX14):c.485C>A (p.Thr162Lys) rs2124639470
NM_004565.3(PEX14):c.4_5delinsTT (p.Ala2Leu) rs2124356650
NM_004565.3(PEX14):c.517G>A (p.Val173Ile) rs200019568
NM_004565.3(PEX14):c.519C>G (p.Val173=) rs2521880707
NM_004565.3(PEX14):c.535C>G (p.Gln179Glu) rs769167832
NM_004565.3(PEX14):c.566A>G (p.His189Arg) rs1570368526
NM_004565.3(PEX14):c.585+4C>A rs1283396816
NM_004565.3(PEX14):c.585G>A (p.Lys195=) rs2521881535
NM_004565.3(PEX14):c.596C>G (p.Ser199Cys) rs932537713
NM_004565.3(PEX14):c.602A>C (p.Asn201Thr) rs142285791
NM_004565.3(PEX14):c.629A>G (p.Asn210Ser) rs2521905691
NM_004565.3(PEX14):c.631G>A (p.Glu211Lys) rs777737482
NM_004565.3(PEX14):c.631G>C (p.Glu211Gln) rs777737482
NM_004565.3(PEX14):c.652T>C (p.Ser218Pro)
NM_004565.3(PEX14):c.677+6_677+8del rs1425419817
NM_004565.3(PEX14):c.697C>G (p.Pro233Ala) rs2521923858
NM_004565.3(PEX14):c.700T>G (p.Ser234Ala) rs1387061364
NM_004565.3(PEX14):c.703G>C (p.Ala235Pro) rs778227279
NM_004565.3(PEX14):c.707C>T (p.Pro236Leu) rs141373791
NM_004565.3(PEX14):c.709A>G (p.Lys237Glu) rs2521924076
NM_004565.3(PEX14):c.70C>T (p.Pro24Ser) rs2522647101
NM_004565.3(PEX14):c.715C>T (p.Pro239Ser) rs745559681
NM_004565.3(PEX14):c.721T>C (p.Trp241Arg) rs2124649865
NM_004565.3(PEX14):c.743C>A (p.Pro248Gln) rs553512429
NM_004565.3(PEX14):c.752C>T (p.Ser251Phe) rs1160685953
NM_004565.3(PEX14):c.758del (p.Pro253fs) rs35723571
NM_004565.3(PEX14):c.761C>T (p.Ala254Val) rs149265608
NM_004565.3(PEX14):c.76G>A (p.Glu26Lys) rs748746721
NM_004565.3(PEX14):c.806A>C (p.Asn269Thr) rs1221175194
NM_004565.3(PEX14):c.80C>T (p.Pro27Leu) rs1161833863
NM_004565.3(PEX14):c.816GTC[1] (p.Ser275del) rs1641853895
NM_004565.3(PEX14):c.820T>C (p.Ser274Pro) rs2521925610
NM_004565.3(PEX14):c.854_859dup (p.Ser286_Thr287insSerSer) rs1641856216
NM_004565.3(PEX14):c.862G>A (p.Val288Ile) rs1207319506
NM_004565.3(PEX14):c.881G>A (p.Gly294Asp) rs1386505247
NM_004565.3(PEX14):c.883C>A (p.Pro295Thr) rs886045017
NM_004565.3(PEX14):c.883C>T (p.Pro295Ser) rs886045017
NM_004565.3(PEX14):c.889G>A (p.Glu297Lys) rs2124650376
NM_004565.3(PEX14):c.890A>C (p.Glu297Ala) rs1641858772
NM_004565.3(PEX14):c.904G>C (p.Val302Leu) rs759395711
NM_004565.3(PEX14):c.908T>C (p.Val303Ala) rs1160257639
NM_004565.3(PEX14):c.937G>A (p.Val313Met) rs1178472997
NM_004565.3(PEX14):c.946G>A (p.Glu316Lys) rs903736101
NM_004565.3(PEX14):c.946GAG[2] (p.Glu318del) rs1557442698
NM_004565.3(PEX14):c.959_967del (p.Arg320_Asp322del) rs2124650605
NM_004565.3(PEX14):c.964G>T (p.Asp322Tyr) rs1324926352
NM_004565.3(PEX14):c.967A>G (p.Lys323Glu) rs368244738
NM_004565.3(PEX14):c.970G>A (p.Glu324Lys) rs1641863492
NM_004565.3(PEX14):c.976G>A (p.Glu326Lys) rs748930085
NM_004565.3(PEX14):c.992ATG[2] (p.Asp333del) rs760231440
NM_004565.3(PEX14):c.992ATG[4] (p.Asp333dup) rs760231440
NM_004565.3(PEX14):c.997G>T (p.Asp333Tyr) rs2124650787

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