ClinVar Miner

List of variants studied for Zellweger syndrome by Invitae

Included ClinVar conditions (31):
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ClinVar version:
Total variants: 53
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HGVS dbSNP
NC_000007.14:g.(?_92489273)_(92491522_?)del
NM_000286.2(PEX12):c.268_271delAAGA (p.Lys90Glufs) rs61752100
NM_000286.2(PEX12):c.681-3_681-2delCA rs138568975
NM_000286.2(PEX12):c.785_787delACT (p.Asp262_Trp263delinsGly) rs759584047
NM_000287.3(PEX6):c.1234-7_1234-6dupTT rs200121485
NM_000287.3(PEX6):c.1310G>A (p.Gly437Asp)
NM_000287.3(PEX6):c.1409G>C (p.Gly470Ala)
NM_000287.3(PEX6):c.1677C>A (p.Asp559Glu) rs61732159
NM_000287.3(PEX6):c.1941C>A (p.Cys647Ter)
NM_000287.3(PEX6):c.207C>T (p.Pro69=) rs11539736
NM_000287.3(PEX6):c.2095-21_2095-10delCACGCACTTTCC rs772869377
NM_000287.3(PEX6):c.210G>A (p.Gly70=) rs398123304
NM_000287.3(PEX6):c.2644G>A (p.Val882Ile) rs2274516
NM_000287.3(PEX6):c.2667-2A>C
NM_000288.3(PEX7):c.653C>T (p.Ala218Val) rs121909151
NM_000288.3(PEX7):c.74C>T (p.Ser25Phe) rs61753236
NM_000288.3(PEX7):c.875T>A (p.Leu292Ter) rs1805137
NM_000288.3(PEX7):c.903+1G>C rs148591292
NM_000318.2(PEX2):c.716C>T (p.Thr239Ile)
NM_000318.2(PEX2):c.733G>A (p.Ala245Thr) rs112108739
NM_000466.2(PEX1):c.-137T>C rs12386601
NM_000466.2(PEX1):c.-53C>G rs12386703
NM_000466.2(PEX1):c.1239+1G>T rs756876301
NM_000466.2(PEX1):c.1927delA (p.Thr643Profs)
NM_000466.2(PEX1):c.2097dupT (p.Ile700Tyrfs) rs61750415
NM_000466.2(PEX1):c.2442C>T (p.Phe814=) rs145430946
NM_000466.2(PEX1):c.2528G>A (p.Gly843Asp) rs61750420
NM_000466.2(PEX1):c.2845C>T (p.Arg949Trp)
NM_000466.2(PEX1):c.2966T>C (p.Ile989Thr) rs61750427
NM_000466.2(PEX1):c.3598A>T (p.Ile1200Phe) rs886043722
NM_000466.2(PEX1):c.3710C>A (p.Ala1237Glu) rs1473858573
NM_000466.2(PEX1):c.3832C>A (p.Gln1278Lys)
NM_000466.2(PEX1):c.468A>G (p.Gln156=) rs149729088
NM_002618.3(PEX13):c.1078C>G (p.Leu360Val) rs74350038
NM_002618.3(PEX13):c.1180A>T (p.Ile394Phe)
NM_002618.3(PEX13):c.464A>G (p.Tyr155Cys)
NM_002618.3(PEX13):c.465T>G (p.Tyr155Ter)
NM_002618.3(PEX13):c.478G>C (p.Ala160Pro)
NM_002618.3(PEX13):c.508C>T (p.Arg170Ter)
NM_002618.3(PEX13):c.586C>T (p.Gln196Ter)
NM_002857.3(PEX19):c.261C>T (p.Phe87=) rs146644725
NM_002857.3(PEX19):c.362C>T (p.Ser121Phe)
NM_002857.3(PEX19):c.879T>C (p.Gly293=) rs74125561
NM_004565.2(PEX14):c.247G>A (p.Ala83Thr)
NM_004565.2(PEX14):c.475G>A (p.Val159Met) rs74052157
NM_004565.2(PEX14):c.513C>A (p.Ala171=) rs35046754
NM_004565.2(PEX14):c.575C>G (p.Ala192Gly) rs147706488
NM_004813.2(PEX16):c.760G>C (p.Val254Leu) rs35214605
NM_017929.5(PEX26):c.710G>A (p.Arg237His)
NM_017929.5(PEX26):c.911G>A (p.Arg304His) rs17851387
NM_153818.1(PEX10):c.665G>A (p.Arg222His) rs371979619
NM_153818.1(PEX10):c.764dupA (p.Leu256Alafs) rs61750435
NM_153818.1(PEX10):c.880A>G (p.Thr294Ala) rs34154371

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