ClinVar Miner

List of variants studied for peroxisome biogenesis disorder due to PEX14 defect by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_004565.3(PEX14):c.156C>T (p.Phe52=) rs12375 0.25602
NM_004565.3(PEX14):c.384+14A>T rs284238 0.19360
NM_004565.3(PEX14):c.1032G>T (p.Gly344=) rs11539794 0.13336
NM_004565.3(PEX14):c.1014C>T (p.Asp338=) rs2128414 0.04291
NM_004565.3(PEX14):c.475G>A (p.Val159Met) rs74052157 0.02375
NM_004565.3(PEX14):c.513C>A (p.Ala171=) rs35046754 0.01363
NM_004565.3(PEX14):c.768G>A (p.Val256=) rs36083022 0.01070
NM_004565.3(PEX14):c.959G>A (p.Arg320Lys) rs12070353 0.00912
NM_004565.3(PEX14):c.213C>G (p.Gly71=) rs41274482 0.00899
NM_004565.3(PEX14):c.504G>A (p.Thr168=) rs146781531 0.00548
NM_004565.3(PEX14):c.795A>G (p.Ser265=) rs41274484 0.00451
NM_004565.3(PEX14):c.349G>T (p.Ala117Ser) rs12061667 0.00324
NM_004565.3(PEX14):c.170-13C>T rs182967518 0.00222
NM_004565.3(PEX14):c.825G>A (p.Ser275=) rs143412169 0.00179
NM_004565.3(PEX14):c.*576A>G rs530124005 0.00170
NM_004565.3(PEX14):c.36+8G>A rs200154696 0.00107
NM_004565.3(PEX14):c.208T>G (p.Ser70Ala) rs77261230 0.00105
NM_004565.3(PEX14):c.474C>A (p.Ser158Arg) rs145867351 0.00057
NM_004565.3(PEX14):c.78G>A (p.Glu26=) rs144664869 0.00047
NM_004565.3(PEX14):c.360A>G (p.Ala120=) rs148479162 0.00021
NM_004565.3(PEX14):c.400C>G (p.Leu134Val) rs140476337 0.00021
NM_004565.3(PEX14):c.381C>T (p.Tyr127=) rs372630614 0.00013
NM_004565.3(PEX14):c.*369A>G rs977546775 0.00012
NM_004565.3(PEX14):c.993T>G (p.Asp331Glu) rs79954820 0.00011
NM_004565.3(PEX14):c.488-14C>T rs200684088 0.00009
NM_004565.3(PEX14):c.766G>A (p.Val256Met) rs143378690 0.00009
NM_004565.3(PEX14):c.26A>T (p.Gln9Leu) rs201979629 0.00006
NM_004565.3(PEX14):c.274C>G (p.Pro92Ala) rs199525137 0.00006
NM_004565.3(PEX14):c.911A>T (p.Asp304Val) rs199860518 0.00006
NM_004565.3(PEX14):c.297C>T (p.Tyr99=) rs371473184 0.00004
NM_004565.3(PEX14):c.860C>T (p.Thr287Met) rs376758920 0.00004
NM_004565.3(PEX14):c.*564C>T rs561807671 0.00003
NM_004565.3(PEX14):c.*7G>T rs367982022 0.00003
NM_004565.3(PEX14):c.118C>T (p.Arg40Trp) rs770183471 0.00003
NM_004565.3(PEX14):c.855C>G (p.Gly285=) rs201107513 0.00003
NM_004565.3(PEX14):c.1128G>C (p.Arg376=) rs772300180 0.00002
NM_004565.3(PEX14):c.*256A>G rs373498478 0.00001
NM_004565.3(PEX14):c.*459T>C rs954625667 0.00001
NM_004565.3(PEX14):c.233C>T (p.Ser78Leu) rs778315559 0.00001
NM_004565.3(PEX14):c.516C>T (p.Ser172=) rs543843635 0.00001
NM_004565.3(PEX14):c.888G>T (p.Gln296His) rs1358510161 0.00001
NM_004565.3(PEX14):c.912C>T (p.Asp304=) rs1202283239 0.00001
NM_004565.3(PEX14):c.925G>T (p.Val309Leu) rs764272265 0.00001
NM_004565.3(PEX14):c.*400G>T rs886045019
NM_004565.3(PEX14):c.*515C>T rs886045020
NM_004565.3(PEX14):c.*570C>T rs1641898212
NM_004565.3(PEX14):c.*616C>T rs541842608
NM_004565.3(PEX14):c.*685A>T rs1156589089
NM_004565.3(PEX14):c.626T>C (p.Ile209Thr) rs758355392
NM_004565.3(PEX14):c.861G>T (p.Thr287=) rs371329619
NM_004565.3(PEX14):c.883C>T (p.Pro295Ser) rs886045017

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