List of variants reported as benign for Phytanic acid storage disease

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_006214.4(PHYH):c.153C>T (p.Asn51=)	rs1747682	0.96869
NM_006214.4(PHYH):c.76-48T>C	rs7916926	0.35507
NM_006214.4(PHYH):c.636A>G (p.Thr212=)	rs473407	0.28866
NM_006214.4(PHYH):c.*65G>A	rs11133	0.27698
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser)	rs28938169	0.15001
NM_006214.4(PHYH):c.643G>A (p.Gly215Ser)	rs7901902	0.00603
NM_006214.4(PHYH):c.321G>A (p.Ser107=)	rs115198308	0.00106
NM_000288.4(PEX7):c.257_258insAGT	rs1801001
NM_006214.4(PHYH):c.*189del	rs3839912

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