List of variants reported as likely benign for peroxisomal disease by Counsyl

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln)	rs62619919	0.00690
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)	rs34324426	0.00294
NM_000030.3(AGXT):c.777-17C>A	rs112319664	0.00036
NM_000414.4(HSD17B4):c.1261+14A>G	rs371682983	0.00029
NM_000287.4(PEX6):c.2730G>A (p.Thr910=)	rs774721609	0.00005
NM_002617.4(PEX10):c.711C>T (p.Tyr237=)	rs761005209	0.00005
NM_000414.4(HSD17B4):c.113-2206T>C	rs541081959	0.00004
NM_000030.3(AGXT):c.942+14T>G	rs886055843	0.00002
NM_000414.4(HSD17B4):c.102G>A (p.Ala34=)	rs778708979	0.00001
NM_000288.4(PEX7):c.130+32_130+51del	rs1554328334
NM_000414.4(HSD17B4):c.58+127_58+129del	rs1394106982
NM_000414.4(HSD17B4):c.58+189G>C	rs1554059562
NM_000466.3(PEX1):c.129+10C>T	rs886062508

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