List of variants in gene PEX19 reported as likely pathogenic for Peroxisome biogenesis disorder 12A (Zellweger)

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_002857.4(PEX19):c.346+1G>A	rs75072667	0.00001
NM_002857.4(PEX19):c.180+1G>T	rs1320716582
NM_002857.4(PEX19):c.181-2A>G	rs2101804905
NM_002857.4(PEX19):c.281T>A (p.Leu94Ter)
NM_002857.4(PEX19):c.346+2T>C	rs1657837348
NM_002857.4(PEX19):c.594+1G>C
NM_002857.4(PEX19):c.70+2T>G

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