List of variants reported as pathogenic for Peroxisome biogenesis disorder 9B by Invitae

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Total variants: 15

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HGVS	dbSNP
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter)	rs61753238
NM_000288.4(PEX7):c.130+1G>A	rs267608253
NM_000288.4(PEX7):c.183del (p.Phe61fs)	rs774131564
NM_000288.4(PEX7):c.340-10A>G	rs267608255
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter)	rs121909154
NM_000288.4(PEX7):c.429del (p.Val144fs)	rs61753248
NM_000288.4(PEX7):c.45_52dup (p.His18fs)	rs63535662
NM_000288.4(PEX7):c.49_70dup (p.Phe24fs)	rs0
NM_000288.4(PEX7):c.592C>T (p.Gln198Ter)	rs764924345
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)	rs121909152
NM_000288.4(PEX7):c.653C>T (p.Ala218Val)	rs121909151
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter)	rs121909153
NM_000288.4(PEX7):c.6_12TGCGGTG[3] (p.Gly7fs)	rs62636519
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)	rs1805137
NM_000288.4(PEX7):c.903+1G>C	rs148591292

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