ClinVar Miner

List of variants studied for REFSUM DISEASE, ADULT, 1 by OMIM

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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.610G>A (p.Gly204Ser) rs104894173 0.00001
NM_006214.4(PHYH):c.824G>A (p.Arg275Gln) rs104894174 0.00001
NM_006214.4(PHYH):c.164del (p.Leu55fs) rs730882058
NM_006214.4(PHYH):c.526C>A (p.Gln176Lys) rs28939672
NM_006214.4(PHYH):c.574_576dup (p.Ala192_Trp193insAla) rs2131640741
NM_006214.4(PHYH):c.805A>C (p.Asn269His) rs104894179

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