ClinVar Miner

List of variants reported as likely pathogenic for Peroxisome biogenesis disorder 6A; Peroxisome biogenesis disorder 6B

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Total variants: 20
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HGVS dbSNP
NM_153818.1(PEX10):c.113-1G>A rs867305222
NM_153818.1(PEX10):c.1A>G (p.Met1Val) rs886041314
NM_153818.1(PEX10):c.20delG (p.Ser7Thrfs) rs1553232926
NM_153818.1(PEX10):c.26delC (p.Pro9Argfs) rs1553232917
NM_153818.1(PEX10):c.373C>T (p.Arg125Ter) rs61750434
NM_153818.1(PEX10):c.4delG (p.Ala2Profs) rs62636524
NM_153818.1(PEX10):c.600+1delG rs1553232077
NM_153818.1(PEX10):c.623_624delTC (p.Leu208Glnfs) rs1553231896
NM_153818.1(PEX10):c.635_636delTGinsCTC (p.Met212Thrfs) rs1553231888
NM_153818.1(PEX10):c.637_638delAG (p.Ser213Cysfs) rs1553231875
NM_153818.1(PEX10):c.752_763del12 (p.Ser251_Arg346del) rs768893724
NM_153818.1(PEX10):c.815_816delAC (p.His272Profs) rs1325771720
NM_153818.1(PEX10):c.821delG (p.Gly274Alafs) rs1553231820
NM_153818.1(PEX10):c.836+2T>A rs1335685844
NM_153818.1(PEX10):c.836+2T>C rs1335685844
NM_153818.1(PEX10):c.850G>T (p.Glu284Ter) rs769251149
NM_153818.1(PEX10):c.855_856delAG (p.Arg285Serfs) rs1553231787
NM_153818.1(PEX10):c.875delT (p.Leu292Argfs) rs1553231783
NM_153818.1(PEX10):c.972+1G>A rs1553231739
NM_153818.1(PEX10):c.972+1G>C rs1553231739

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