ClinVar Miner

List of variants in gene PEX19 reported as benign for Zellweger spectrum disorders

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_002857.4(PEX19):c.594+37T>C rs2795067 0.64655
NM_002857.4(PEX19):c.*2156C>G rs10594 0.44938
NM_002857.4(PEX19):c.*2353G>T rs9853 0.04407
NM_002857.4(PEX19):c.*487T>A rs16831724 0.03465
NM_002857.4(PEX19):c.*1084T>C rs77962224 0.03113
NM_002857.4(PEX19):c.*2417C>T rs193290301 0.02557
NM_002857.4(PEX19):c.433-11G>T rs41265791 0.02551
NM_002857.4(PEX19):c.*2637G>A rs41265787 0.02253
NM_002857.4(PEX19):c.*898A>G rs8989 0.02188
NM_002857.4(PEX19):c.*328A>G rs115260345 0.01698
NM_002857.4(PEX19):c.879T>C (p.Gly293=) rs74125561 0.01375
NM_002857.3(PEX19):c.-14T>G rs2301297 0.00535
NM_002857.4(PEX19):c.771+3A>G rs141133579 0.00429
NM_002857.4(PEX19):c.261C>T (p.Phe87=) rs146644725 0.00206
NM_002857.4(PEX19):c.*1471A>T rs2301299 0.00133
NM_002857.4(PEX19):c.346+14A>G rs77156017 0.00133
NM_002857.4(PEX19):c.459G>A (p.Leu153=) rs78340311 0.00098
NM_002857.4(PEX19):c.16G>A (p.Glu6Lys) rs145845197 0.00093
NM_002857.4(PEX19):c.564G>A (p.Leu188=) rs149058086 0.00078
NM_002857.4(PEX19):c.254C>T (p.Ala85Val) rs11550119 0.00041
NM_002857.4(PEX19):c.347-13T>A rs371091340 0.00034
NM_002857.4(PEX19):c.181-15A>G rs114403769
NM_002857.4(PEX19):c.30C>T (p.Val10=) rs144440223
NM_002857.4(PEX19):c.726C>T (p.Thr242=) rs564013133

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