List of variants studied for Phytanic acid storage disease; Rhizomelic chondrodysplasia punctata type 1; Peroxisome biogenesis disorder 9B by Fulgent Genetics, Fulgent Genetics

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro)	rs113268723	0.00376
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)	rs1805137	0.00048
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln)	rs191969418	0.00011
NM_000288.4(PEX7):c.903+1G>C	rs148591292	0.00011
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter)	rs61753238	0.00010
NM_000288.4(PEX7):c.653C>T (p.Ala218Val)	rs121909151	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.188+1G>C	rs267608254	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.277C>T (p.Gln93Ter)	rs763514968
NM_000288.4(PEX7):c.904-1G>A	rs1413838301

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