ClinVar Miner

List of variants reported as pathogenic for Zellweger syndrome by Invitae

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP
NC_000007.13:g.(?_92118587)_(92120836_?)del
NM_000286.3(PEX12):c.126+1G>T rs144259891
NM_000286.3(PEX12):c.268_271del (p.Lys90fs) rs61752100
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter) rs61752106
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) rs267608216
NM_000287.4(PEX6):c.1941C>A (p.Cys647Ter)
NM_000287.4(PEX6):c.1947del (p.Ile650fs) rs267608227
NM_000287.4(PEX6):c.2074C>T (p.Gln692Ter)
NM_000287.4(PEX6):c.2439del (p.Arg814fs)
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) rs267608241
NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp) rs61753230
NM_000287.4(PEX6):c.2667-2A>C
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) rs61753238
NM_000288.4(PEX7):c.130+1G>A
NM_000288.4(PEX7):c.429del (p.Val144fs) rs61753248
NM_000288.4(PEX7):c.45_52dup (p.His18fs) rs63535662
NM_000288.4(PEX7):c.6_12TGCGGTG[3] (p.Gly7fs) rs62636519
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137
NM_000288.4(PEX7):c.903+1G>C rs148591292
NM_000318.3(PEX2):c.232C>T (p.Gln78Ter)
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer) rs764771123
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) rs61752123
NM_000318.3(PEX2):c.497T>A (p.Leu166Ter)
NM_000466.3(PEX1):c.1108dup (p.Ile370fs)
NM_000466.3(PEX1):c.1163G>A (p.Trp388Ter)
NM_000466.3(PEX1):c.1239+1G>T rs756876301
NM_000466.3(PEX1):c.1908del (p.Arg636fs) rs1057517478
NM_000466.3(PEX1):c.1927del (p.Thr643fs) rs1554372180
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.2368C>T (p.Arg790Ter) rs61750417
NM_000466.3(PEX1):c.2471del (p.Ala824fs)
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420
NM_000466.3(PEX1):c.2916del (p.Gly973fs) rs61750426
NM_000466.3(PEX1):c.2926+1G>A rs267608179
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter) rs61750428
NM_000466.3(PEX1):c.2T>G (p.Met1Arg) rs766020928
NM_000466.3(PEX1):c.3689_3692GTCA[1] (p.Gln1231fs) rs769836601
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter) rs762679408
NM_000466.3(PEX1):c.782_783del (p.Gln261fs) rs749067142
NM_001079867.1(PEX2):c.218del (p.Asn73fs)
NM_001079867.1(PEX2):c.550del (p.Arg184fs)
NM_002618.4(PEX13):c.465T>G (p.Tyr155Ter)
NM_002618.4(PEX13):c.508C>T (p.Arg170Ter)
NM_002618.4(PEX13):c.586C>T (p.Gln196Ter) rs1559035738
NM_017929.6(PEX26):c.292C>T (p.Arg98Trp) rs62641228
NM_017929.6(PEX26):c.34dup (p.Leu12fs) rs61752129
NM_153818.1(PEX10):c.338del (p.Leu113fs) rs878853044
NM_153818.1(PEX10):c.600+1G>A rs267608183
NM_153818.1(PEX10):c.764dup (p.Leu256fs) rs61750435
NM_153818.1(PEX10):c.874_875del (p.Leu292fs) rs61752093

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