ClinVar Miner

List of variants in gene PHYH reported as likely benign for autosomal ichthyosis syndrome

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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NM_006214.4(PHYH):c.*22T>G rs186628076
NM_006214.4(PHYH):c.*47G>A rs180770135
NM_006214.4(PHYH):c.1010_1012dup (p.Leu338_Ter339insHis) rs566116760
NM_006214.4(PHYH):c.126A>G (p.Gln42=) rs150631501
NM_006214.4(PHYH):c.321G>A (p.Ser107=) rs115198308
NM_006214.4(PHYH):c.415-11del rs140309981
NM_006214.4(PHYH):c.678+15C>T rs140995522
NM_006214.4(PHYH):c.717C>T (p.Tyr239=) rs142720126
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919
NM_006214.4(PHYH):c.980G>A (p.Arg327Gln) rs367851769

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