ClinVar Miner

List of variants in gene PHKG2 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000294.3(PHKG2):c.271+38C>T rs4889504 0.96355
NM_000294.3(PHKG2):c.96-10G>T rs74015042 0.00340
NM_000294.3(PHKG2):c.324C>T (p.Asp108=) rs138416154 0.00252
NM_000294.3(PHKG2):c.1137T>C (p.Pro379=) rs61731628 0.00240
NM_000294.3(PHKG2):c.288C>T (p.Ser96=) rs56029513 0.00158
NM_000294.3(PHKG2):c.393G>A (p.Arg131=) rs55751949 0.00153
NM_000294.3(PHKG2):c.174A>T (p.Thr58=) rs56207641 0.00059
NM_000294.3(PHKG2):c.585G>A (p.Ala195=) rs187710792 0.00038
NM_000294.3(PHKG2):c.96-11G>A rs751600886 0.00006
NM_000294.3(PHKG2):c.153G>A (p.Ala51=) rs368095671 0.00002
NM_000294.3(PHKG2):c.1050C>A (p.Ile350=)
NM_000294.3(PHKG2):c.1050C>T (p.Ile350=) rs371914785
NM_000294.3(PHKG2):c.36C>T (p.Pro12=) rs886038277
NM_000294.3(PHKG2):c.392+10G>A
NM_000294.3(PHKG2):c.698T>C (p.Phe233Ser)

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