List of variants in gene PEX7 reported as uncertain significance for Phytanic acid storage disease; Rhizomelic chondrodysplasia punctata type 1; Peroxisome biogenesis disorder 9B

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln)	rs191969418	0.00020
NM_000288.4(PEX7):c.313C>A (p.Gln105Lys)	rs372623057	0.00003
NM_000288.4(PEX7):c.86C>T (p.Pro29Leu)	rs757852291	0.00003
NM_000288.4(PEX7):c.129G>C (p.Ala43=)	rs1256466654	0.00001
NM_000288.4(PEX7):c.554T>C (p.Val185Ala)	rs1424846175	0.00001
NM_000288.4(PEX7):c.803+4C>G	rs759745913	0.00001
NM_000288.4(PEX7):c.385G>A (p.Val129Met)	rs746310218
NM_000288.4(PEX7):c.904-1G>A	rs1413838301

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