ClinVar Miner

List of variants reported as benign for Zellweger syndrome by Invitae

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 110
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HGVS dbSNP
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802
NM_000286.3(PEX12):c.681-3_681-2del rs138568975
NM_000286.3(PEX12):c.733T>A (p.Leu245Ile) rs12941376
NM_000286.3(PEX12):c.867C>T (p.Asp289=) rs138720627
NM_000287.4(PEX6):c.1028G>A (p.Arg343Gln) rs111282915
NM_000287.4(PEX6):c.1071A>G (p.Leu357=) rs116318004
NM_000287.4(PEX6):c.1207G>A (p.Asp403Asn) rs535326039
NM_000287.4(PEX6):c.1234-8_1234-7dup rs200121485
NM_000287.4(PEX6):c.1480-5C>T rs376473597
NM_000287.4(PEX6):c.1491C>T (p.Ser497=) rs79238506
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val) rs115960224
NM_000287.4(PEX6):c.1680C>T (p.Pro560=) rs372998833
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000287.4(PEX6):c.207C>T (p.Pro69=) rs11539736
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu) rs142899308
NM_000287.4(PEX6):c.2436G>A (p.Arg812=) rs61732156
NM_000287.4(PEX6):c.2531T>C (p.Val844Ala) rs187435179
NM_000287.4(PEX6):c.25C>T (p.Leu9=) rs183449855
NM_000287.4(PEX6):c.2644G>A (p.Val882Ile) rs2274516
NM_000287.4(PEX6):c.2770G>T (p.Ala924Ser) rs34551839
NM_000287.4(PEX6):c.2936C>T (p.Ala979Val) rs115180949
NM_000287.4(PEX6):c.813G>T (p.Ala271=) rs35503676
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala) rs61753220
NM_000287.4(PEX6):c.969C>T (p.Ile323=) rs143001881
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000288.4(PEX7):c.418-4G>T rs199552223
NM_000288.4(PEX7):c.615C>T (p.Asp205=) rs147298444
NM_000288.4(PEX7):c.94C>T (p.Leu32=) rs886061118
NM_000318.3(PEX2):c.477G>A (p.Gln159=) rs35218706
NM_000318.3(PEX2):c.550= (p.Cys184=) rs10087163
NM_000318.3(PEX2):c.733G>A (p.Ala245Thr) rs112108739
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu) rs149287302
NM_000466.2(PEX1):c.-137T>C rs12386601
NM_000466.3(PEX1):c.-53C>G rs12386703
NM_000466.3(PEX1):c.1011G>A (p.Lys337=) rs142018583
NM_000466.3(PEX1):c.1077G>A (p.Lys359=) rs138905930
NM_000466.3(PEX1):c.1085C>T (p.Ser362Leu) rs138758170
NM_000466.3(PEX1):c.1142C>A (p.Ala381Asp) rs73404416
NM_000466.3(PEX1):c.1268A>G (p.Asn423Ser) rs200857848
NM_000466.3(PEX1):c.130-9T>C rs377337949
NM_000466.3(PEX1):c.1434T>G (p.Leu478=) rs757668497
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile) rs139919229
NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys) rs112822975
NM_000466.3(PEX1):c.1725G>A (p.Leu575=) rs150667796
NM_000466.3(PEX1):c.1797A>G (p.Gly599=) rs76986636
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe) rs142838522
NM_000466.3(PEX1):c.2442C>T (p.Phe814=) rs145430946
NM_000466.3(PEX1):c.2718+3A>G rs370536529
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp) rs144825021
NM_000466.3(PEX1):c.2901G>A (p.Gln967=) rs111704518
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598
NM_000466.3(PEX1):c.330C>G (p.Pro110=) rs71560821
NM_000466.3(PEX1):c.3371A>G (p.Asn1124Ser) rs147870525
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu) rs142994610
NM_000466.3(PEX1):c.3426C>T (p.Thr1142=) rs143220470
NM_000466.3(PEX1):c.3720C>T (p.His1240=) rs34825053
NM_000466.3(PEX1):c.3810T>A (p.Ser1270Arg) rs139054881
NM_000466.3(PEX1):c.468A>G (p.Gln156=) rs149729088
NM_000466.3(PEX1):c.473-3C>T rs150576000
NM_000466.3(PEX1):c.645C>G (p.Thr215=) rs151041559
NM_000466.3(PEX1):c.812A>G (p.Asn271Ser) rs138183109
NM_000466.3(PEX1):c.939T>C (p.His313=) rs199647157
NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe) rs150895887
NM_001127649.3(PEX26):c.325T>C (p.Tyr109His) rs45567240
NM_001127649.3(PEX26):c.457C>G (p.Leu153Val) rs12484657
NM_001127649.3(PEX26):c.643G>A (p.Glu215Lys) rs138232280
NM_001127649.3(PEX26):c.728C>T (p.Ala243Val) rs149153003
NM_001127649.3(PEX26):c.882A>G (p.Ala294=) rs751507771
NM_002617.4(PEX10):c.621C>G (p.Pro207=) rs140107510
NM_002617.4(PEX10):c.864C>T (p.Cys288=) rs762621687
NM_002618.4(PEX13):c.1044T>C (p.Val348=) rs151304822
NM_002618.4(PEX13):c.1078C>G (p.Leu360Val) rs74350038
NM_002618.4(PEX13):c.674A>G (p.Asp225Gly) rs116059308
NM_002857.3(PEX19):c.16G>A (p.Glu6Lys) rs145845197
NM_002857.3(PEX19):c.261C>T (p.Phe87=) rs146644725
NM_002857.3(PEX19):c.30C>T (p.Val10=) rs144440223
NM_002857.3(PEX19):c.459G>A (p.Leu153=) rs78340311
NM_002857.3(PEX19):c.564G>A (p.Leu188=) rs149058086
NM_002857.3(PEX19):c.771+3A>G rs141133579
NM_002857.3(PEX19):c.879T>C (p.Gly293=) rs74125561
NM_004565.3(PEX14):c.1107C>T (p.Gly369=) rs781098256
NM_004565.3(PEX14):c.1116C>T (p.Asn372=) rs149856184
NM_004565.3(PEX14):c.208T>G (p.Ser70Ala) rs77261230
NM_004565.3(PEX14):c.213C>G (p.Gly71=) rs41274482
NM_004565.3(PEX14):c.267C>G (p.Val89=) rs146359055
NM_004565.3(PEX14):c.349G>T (p.Ala117Ser) rs12061667
NM_004565.3(PEX14):c.36+8G>A rs200154696
NM_004565.3(PEX14):c.400C>G (p.Leu134Val) rs140476337
NM_004565.3(PEX14):c.475G>A (p.Val159Met) rs74052157
NM_004565.3(PEX14):c.504G>A (p.Thr168=) rs146781531
NM_004565.3(PEX14):c.513C>A (p.Ala171=) rs35046754
NM_004565.3(PEX14):c.78G>A (p.Glu26=) rs144664869
NM_004565.3(PEX14):c.795A>G (p.Ser265=) rs41274484
NM_004565.3(PEX14):c.825G>A (p.Ser275=) rs143412169
NM_004565.3(PEX14):c.873C>T (p.His291=) rs115117459
NM_004565.3(PEX14):c.959G>A (p.Arg320Lys) rs12070353
NM_004813.3(PEX16):c.149-6C>T rs78883829
NM_004813.3(PEX16):c.303C>T (p.Ala101=) rs80275010
NM_004813.3(PEX16):c.760G>C (p.Val254Leu) rs35214605
NM_004813.3(PEX16):c.943C>T (p.Leu315=) rs150774189
NM_153818.1(PEX10):c.318G>A (p.Leu106=) rs146452560
NM_153818.1(PEX10):c.332T>C (p.Leu111Pro) rs35426403
NM_153818.1(PEX10):c.435G>A (p.Met145Ile) rs368273118
NM_153818.1(PEX10):c.495C>T (p.Phe165=) rs150344828
NM_153818.1(PEX10):c.687G>A (p.Glu229=) rs141430704
NM_153818.1(PEX10):c.745G>C (p.Val249Leu) rs139345520
NM_153818.1(PEX10):c.880A>G (p.Thr294Ala) rs34154371
NM_153818.1(PEX10):c.903G>A (p.Arg301=) rs35082957

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