ClinVar Miner

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

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Total variants: 19
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HGVS dbSNP
NM_002617.3(PEX10):c.20del (p.Ser7fs) rs1553232926
NM_002617.3(PEX10):c.26del (p.Pro9fs) rs1553232917
NM_002617.3(PEX10):c.600+1del rs1553232077
NM_002617.3(PEX10):c.601-24_601-23del rs1553231875
NM_002617.3(PEX10):c.601-26_601-25delinsCTC rs1553231888
NM_002617.3(PEX10):c.755_756del (p.His252fs) rs1325771720
NM_002617.3(PEX10):c.761del (p.Gly254fs) rs1553231820
NM_002617.3(PEX10):c.791_792AG[2] (p.Arg265fs) rs1553231787
NM_002617.3(PEX10):c.815del (p.Leu272fs) rs1553231783
NM_153818.1(PEX10):c.113-1G>A rs867305222
NM_153818.1(PEX10):c.1A>G (p.Met1Val) rs886041314
NM_153818.1(PEX10):c.373C>T (p.Arg125Ter) rs61750434
NM_153818.1(PEX10):c.623_624del (p.Leu208fs) rs1553231896
NM_153818.1(PEX10):c.752_763del (p.Ser251_Gln255delinsTer) rs768893724
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.972+1G>A rs1553231739
NM_153818.1(PEX10):c.972+1G>C rs1553231739

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