ClinVar Miner

List of variants in gene PHYH reported as pathogenic for Phytanic acid storage disease

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_006214.4(PHYH):c.135-2A>G rs201578674 0.00017
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178 0.00007
NM_006214.4(PHYH):c.497-2A>G rs144169488 0.00004
NM_006214.4(PHYH):c.375_376del (p.Glu126fs) rs1435262914 0.00003
NM_006214.4(PHYH):c.135-1G>C rs1057272016 0.00001
NM_006214.4(PHYH):c.824G>A (p.Arg275Gln) rs104894174 0.00001
NM_006214.4(PHYH):c.457del (p.Ala153fs)
NM_006214.4(PHYH):c.679-1dup rs767403321

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