ClinVar Miner

List of variants in gene PHYH reported as uncertain significance by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 5
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HGVS dbSNP gnomAD frequency
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.568G>A (p.Val190Ile) rs146190978 0.00071
NM_006214.4(PHYH):c.574G>T (p.Ala192Ser) rs751660253
NM_006214.4(PHYH):c.679G>T (p.Gly227Trp) rs201936962

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