ClinVar Miner

List of variants in gene PHYH reported by Mayo Clinic Laboratories, Mayo Clinic

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_006214.4(PHYH):c.153C>T (p.Asn51=) rs1747682 0.96869
NM_006214.4(PHYH):c.636A>G (p.Thr212=) rs473407 0.28866
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser) rs28938169 0.15001
NM_006214.4(PHYH):c.717C>T (p.Tyr239=) rs142720126 0.00243
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.568G>A (p.Val190Ile) rs146190978 0.00071
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.823C>T (p.Arg275Trp) rs104894178 0.00007
NM_006214.4(PHYH):c.781T>A (p.Leu261Met) rs1226629214
NM_006214.4(PHYH):c.846C>A (p.Phe282Leu) rs373839944

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