ClinVar Miner

List of variants reported as likely benign for Zellweger spectrum disorders by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_000466.3(PEX1):c.3720C>T (p.His1240=) rs34825053 0.00582
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe) rs142838522 0.00270
NM_000466.3(PEX1):c.934A>G (p.Ile312Val) rs146312634 0.00223
NM_000466.3(PEX1):c.330C>G (p.Pro110=) rs71560821 0.00218
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544 0.00217
NM_000466.3(PEX1):c.2442C>T (p.Phe814=) rs145430946 0.00216
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe) rs141798874 0.00185
NM_002617.4(PEX10):c.712G>C (p.Gly238Arg) rs61736380 0.00172
NM_000466.3(PEX1):c.130-9T>C rs377337949 0.00157
NM_000466.3(PEX1):c.1011G>A (p.Lys337=) rs142018583 0.00155
NM_000466.3(PEX1):c.1797A>G (p.Gly599=) rs76986636 0.00140
NM_000466.3(PEX1):c.3426C>T (p.Thr1142=) rs143220470 0.00124
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=) rs140963147 0.00069
NM_000466.3(PEX1):c.645C>G (p.Thr215=) rs151041559 0.00066
NM_002617.4(PEX10):c.896C>T (p.Ala299Val) rs78620392 0.00058
NM_000466.3(PEX1):c.1085C>T (p.Ser362Leu) rs138758170 0.00057
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp) rs144825021 0.00055
NM_002617.4(PEX10):c.816G>T (p.Leu272=) rs144440263 0.00040
NM_002617.4(PEX10):c.765G>A (p.Leu255=) rs140133667 0.00035
NM_000466.3(PEX1):c.939T>C (p.His313=) rs199647157 0.00034
NM_000287.4(PEX6):c.25C>T (p.Leu9=) rs183449855 0.00029
NM_000287.4(PEX6):c.2700C>T (p.Asn900=) rs533766104 0.00029
NM_000466.3(PEX1):c.2868T>A (p.Val956=) rs200663477 0.00024
NM_000466.3(PEX1):c.2640T>C (p.Tyr880=) rs201719745 0.00022
NM_002617.4(PEX10):c.611G>A (p.Arg204His) rs199934621 0.00022
NM_000466.3(PEX1):c.1268A>G (p.Asn423Ser) rs200857848 0.00021
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu) rs142899308 0.00016
NM_000466.3(PEX1):c.159C>T (p.His53=) rs200950057 0.00014
NM_002617.4(PEX10):c.425G>A (p.Arg142Gln) rs138843050 0.00014
NM_000466.3(PEX1):c.3198T>C (p.Ser1066=) rs150190899 0.00012
NM_002617.4(PEX10):c.268C>T (p.Leu90=) rs775772867 0.00011
NM_000287.4(PEX6):c.970G>A (p.Glu324Lys) rs201678533 0.00010
NM_000287.4(PEX6):c.1821C>T (p.Ala607=) rs201730259 0.00008
NM_000287.4(PEX6):c.390C>T (p.Thr130=) rs753963225 0.00008
NM_000466.3(PEX1):c.3762T>C (p.Ala1254=) rs375213175 0.00008
NM_000287.4(PEX6):c.1680C>T (p.Pro560=) rs372998833 0.00007
NM_002617.4(PEX10):c.267G>A (p.Ser89=) rs746952615 0.00006
NM_002617.4(PEX10):c.555C>T (p.His185=) rs75377471 0.00006
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile) rs139919229 0.00005
NM_000466.3(PEX1):c.1281T>C (p.His427=) rs979077056 0.00003
NM_002617.4(PEX10):c.280G>A (p.Val94Met) rs142626035 0.00003
NM_000287.4(PEX6):c.106C>T (p.Leu36=) rs758416830 0.00002
NM_000318.3(PEX2):c.795T>C (p.Tyr265=) rs764785488 0.00002
NM_000466.3(PEX1):c.3381G>A (p.Arg1127=) rs148972713 0.00002
NM_000466.3(PEX1):c.897C>T (p.Asn299=) rs559305030 0.00002
NM_000466.3(PEX1):c.966T>C (p.Phe322=) rs375550740 0.00002
NM_000287.4(PEX6):c.1365A>G (p.Pro455=) rs759402659 0.00001
NM_000287.4(PEX6):c.795C>G (p.Pro265=) rs545106357 0.00001
NM_000318.3(PEX2):c.66A>C (p.Ala22=) rs572094828 0.00001
NM_000466.3(PEX1):c.2853T>C (p.His951=) rs768094112 0.00001
NM_000466.3(PEX1):c.3166T>C (p.Leu1056=) rs1009877821 0.00001
NM_000466.3(PEX1):c.3195G>A (p.Ser1065=) rs768417678 0.00001
NM_000466.3(PEX1):c.3510G>A (p.Leu1170=) rs368014758 0.00001
NM_000466.3(PEX1):c.3633T>C (p.Ser1211=) rs753334806 0.00001
NM_000466.3(PEX1):c.894T>C (p.Tyr298=) rs1792856461 0.00001
NM_000287.4(PEX6):c.2907G>C (p.Arg969=) rs145243129
NM_000287.4(PEX6):c.336G>T (p.Leu112=) rs1194598013
NM_000287.4(PEX6):c.855C>A (p.Pro285=) rs757897959
NM_000287.4(PEX6):c.948A>T (p.Pro316=) rs781704566
NM_000318.3(PEX2):c.717C>T (p.Thr239=) rs2132043284
NM_000318.3(PEX2):c.825C>T (p.Asp275=) rs367649632
NM_000466.3(PEX1):c.1056G>A (p.Val352=) rs1348024001
NM_000466.3(PEX1):c.1152A>G (p.Leu384=) rs776933950
NM_000466.3(PEX1):c.1230G>A (p.Gly410=) rs539382251
NM_000466.3(PEX1):c.1338G>A (p.Lys446=) rs543863652
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp) rs565049190
NM_000466.3(PEX1):c.1434T>G (p.Leu478=) rs757668497
NM_000466.3(PEX1):c.2565T>G (p.Thr855=) rs1472376635
NM_000466.3(PEX1):c.468A>G (p.Gln156=) rs149729088
NM_000466.3(PEX1):c.711T>A (p.Val237=) rs758443247
NM_002617.4(PEX10):c.819C>T (p.Cys273=) rs1570098961

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