ClinVar Miner

List of variants in gene PHYH reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 11
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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.126A>G (p.Gln42=) rs150631501 0.00371
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.601C>G (p.Arg201Gly) rs143957922 0.00124
NM_006214.4(PHYH):c.829-3C>A rs116930123 0.00093
NM_006214.4(PHYH):c.238C>T (p.Arg80Cys) rs369205198 0.00018
NM_006214.4(PHYH):c.530A>G (p.Asp177Gly) rs770262329 0.00004
NM_006214.4(PHYH):c.941C>T (p.Ala314Val) rs777147459 0.00002
NM_006214.4(PHYH):c.512G>A (p.Arg171His) rs752028596 0.00001
NM_006214.4(PHYH):c.830C>A (p.Ala277Glu) rs1211539675 0.00001

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