ClinVar Miner

List of variants in gene PHYH reported by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

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Total variants: 9
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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.1010_1012dup (p.Asn337_Leu338insHis) rs566116760 0.00167
NM_006214.4(PHYH):c.356C>T (p.Thr119Met) rs34571629 0.00155
NM_006214.4(PHYH):c.678+5G>T rs201499815 0.00049
NM_006214.4(PHYH):c.581C>T (p.Thr194Met) rs141554572 0.00019
NM_006214.4(PHYH):c.135-2A>G rs201578674 0.00017
NM_006214.4(PHYH):c.606C>A (p.Asn202Lys) rs201979258 0.00015
NM_006214.4(PHYH):c.679-1dup rs767403321
NM_006214.4(PHYH):c.680G>C (p.Gly227Ala)

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