List of variants reported as likely pathogenic for peroxisomal disease by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp)	rs267608246	0.00001
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter)	rs61752124	0.00001
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp)	rs866184460	0.00001
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp)	rs128624224
NM_000033.4(ABCD1):c.346G>A (p.Gly116Arg)	rs398123110
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met)	rs1131691743
NM_000288.4(PEX7):c.183del (p.Phe61fs)	rs774131564
NM_000414.4(HSD17B4):c.1423_1435del (p.Ser475fs)
NM_001127649.3(PEX26):c.332del (p.Gln111fs)
NM_002617.4(PEX10):c.830T>C (p.Leu277Pro)	rs724160000

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