List of variants in gene PHYH reported as uncertain significance for adult Refsum disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln)	rs62619919	0.00690
NM_006214.4(PHYH):c.356C>T (p.Thr119Met)	rs34571629	0.00155
NM_006214.4(PHYH):c.244C>G (p.Arg82Gly)	rs145404396	0.00140
NM_006214.4(PHYH):c.601C>G (p.Arg201Gly)	rs143957922	0.00124
NM_006214.4(PHYH):c.829-3C>A	rs116930123	0.00093
NM_006214.4(PHYH):c.678+5G>T	rs201499815	0.00049
NM_006214.4(PHYH):c.792C>T (p.His264=)	rs372047384	0.00034
NM_006214.4(PHYH):c.948T>C (p.Asn316=)	rs143734330	0.00024
NM_006214.4(PHYH):c.*188A>C	rs1307667521	0.00023
NM_006214.4(PHYH):c.581C>T (p.Thr194Met)	rs141554572	0.00019
NM_006214.4(PHYH):c.606C>A (p.Asn202Lys)	rs201979258	0.00015
NM_006214.4(PHYH):c.*25C>T	rs760780410	0.00008
NM_006214.4(PHYH):c.76-9A>T	rs368542152	0.00007
NM_006214.4(PHYH):c.354C>G (p.Ile118Met)	rs779724199	0.00006
NM_006214.4(PHYH):c.*417A>G	rs1302015884	0.00005
NM_006214.4(PHYH):c.574G>A (p.Ala192Thr)	rs751660253	0.00003
NM_006214.4(PHYH):c.83A>G (p.His28Arg)	rs778011598	0.00002
NM_006214.4(PHYH):c.1009A>G (p.Asn337Asp)	rs758218321	0.00001
NM_006214.4(PHYH):c.245G>A (p.Arg82Gln)	rs886046830	0.00001
NM_006214.4(PHYH):c.506C>T (p.Thr169Met)	rs1002598201	0.00001
NM_006214.4(PHYH):c.703G>A (p.Gly235Arg)	rs750819521	0.00001
NM_006214.3(PHYH):c.-78G>T	rs886046832
NM_006214.4(PHYH):c.*253G>T	rs550905616
NM_006214.4(PHYH):c.*434A>G	rs1835323896
NM_006214.4(PHYH):c.*499C>T	rs953706106
NM_006214.4(PHYH):c.176A>C (p.Lys59Thr)	rs886046831
NM_006214.4(PHYH):c.244C>T (p.Arg82Trp)	rs145404396
NM_006214.4(PHYH):c.321G>T (p.Ser107=)	rs115198308
NM_006214.4(PHYH):c.621_623del (p.Val208del)	rs755838466
NM_006214.4(PHYH):c.679-11T>A	rs886046828
NM_006214.4(PHYH):c.679G>T (p.Gly227Trp)	rs201936962
NM_006214.4(PHYH):c.739C>T (p.His247Tyr)	rs1835475877
NM_006214.4(PHYH):c.828+4A>T	rs1835471952
NM_006214.4(PHYH):c.93A>C (p.Ser31=)	rs202198596

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