ClinVar Miner

List of variants reported as benign for Peroxisome biogenesis disorder 12A (Zellweger) by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_002857.4(PEX19):c.433-11G>T rs41265791 0.02551
NM_002857.4(PEX19):c.879T>C (p.Gly293=) rs74125561 0.01345
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.346+14A>G rs77156017 0.00182
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.347-13T>A rs371091340 0.00034
NM_002857.4(PEX19):c.726C>T (p.Thr242=) rs564013133 0.00002
NM_002857.4(PEX19):c.181-15A>G rs114403769
NM_002857.4(PEX19):c.30C>T (p.Val10=) rs144440223

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