ClinVar Miner

List of variants in gene PEX19 reported as uncertain significance for Zellweger syndrome

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP
NM_002857.3(PEX19):c.*1103C>T rs561417695
NM_002857.3(PEX19):c.*1163T>C rs575199724
NM_002857.3(PEX19):c.*1330G>A rs886045442
NM_002857.3(PEX19):c.*1335G>T rs748536788
NM_002857.3(PEX19):c.*1450T>A rs886045441
NM_002857.3(PEX19):c.*1592G>A rs779471097
NM_002857.3(PEX19):c.*169C>T rs192931972
NM_002857.3(PEX19):c.*172G>C rs886045449
NM_002857.3(PEX19):c.*1745T>C rs186821837
NM_002857.3(PEX19):c.*1761C>A rs761868324
NM_002857.3(PEX19):c.*1790A>G rs886045440
NM_002857.3(PEX19):c.*1852C>G rs370387085
NM_002857.3(PEX19):c.*1980T>C rs372976790
NM_002857.3(PEX19):c.*2068T>C rs536872409
NM_002857.3(PEX19):c.*2155C>T rs886045439
NM_002857.3(PEX19):c.*2417_*2418CT[2] rs143491060
NM_002857.3(PEX19):c.*2536A>G rs141829599
NM_002857.3(PEX19):c.*2555T>G rs148123121
NM_002857.3(PEX19):c.*2717A>G rs574056299
NM_002857.3(PEX19):c.*361G>A rs886045448
NM_002857.3(PEX19):c.*427A>G rs886045447
NM_002857.3(PEX19):c.*469C>T rs886045446
NM_002857.3(PEX19):c.*662C>T rs773981843
NM_002857.3(PEX19):c.*77del rs771535781
NM_002857.3(PEX19):c.*854G>A rs747191827
NM_002857.3(PEX19):c.*896A>G rs886045445
NM_002857.3(PEX19):c.*898A>G rs8989
NM_002857.3(PEX19):c.*934A>G rs886045444
NM_002857.3(PEX19):c.*998G>A rs886045443
NM_002857.3(PEX19):c.-4C>T rs201541204
NM_002857.3(PEX19):c.115C>T (p.Pro39Ser) rs144256391
NM_002857.3(PEX19):c.149C>T (p.Pro50Leu) rs11550117
NM_002857.3(PEX19):c.181-4G>T rs747572423
NM_002857.3(PEX19):c.181-5C>T rs199818690
NM_002857.3(PEX19):c.347-7C>T rs753523567
NM_002857.3(PEX19):c.362C>T (p.Ser121Phe) rs1557854775
NM_002857.3(PEX19):c.402T>C (p.Ser134=) rs139828188
NM_002857.3(PEX19):c.432+2T>C rs757078881
NM_002857.3(PEX19):c.433-11G>T rs41265791
NM_002857.3(PEX19):c.459G>A (p.Leu153=) rs78340311
NM_002857.3(PEX19):c.498T>G (p.Asp166Glu) rs142780305
NM_002857.3(PEX19):c.630A>C (p.Leu210=) rs202174805
NM_002857.3(PEX19):c.771+3A>G rs141133579

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