ClinVar Miner

List of variants in gene PGK1 reported by Fulgent Genetics, Fulgent Genetics

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000291.4(PGK1):c.909G>C (p.Val303=) rs142525614 0.00089
NM_000291.4(PGK1):c.390G>A (p.Gly130=) rs146350576 0.00085
NM_000291.4(PGK1):c.642-20A>C rs201622343 0.00026
NM_000291.4(PGK1):c.761G>C (p.Gly254Ala) rs148399096 0.00015
NM_000291.4(PGK1):c.937-8C>T rs367749559 0.00010
NM_000291.4(PGK1):c.129T>C (p.Ala43=) rs781822299 0.00008
NM_000291.4(PGK1):c.1192G>A (p.Ala398Thr) rs199644680 0.00006
NM_000291.4(PGK1):c.1234G>A (p.Asp412Asn) rs782165735 0.00006
NM_000291.4(PGK1):c.1243A>G (p.Ser415Gly) rs929302665 0.00005
NM_000291.4(PGK1):c.248T>C (p.Val83Ala) rs138851144 0.00005
NM_000291.4(PGK1):c.116+8C>T rs369581587 0.00004
NM_000291.4(PGK1):c.539A>G (p.Asn180Ser) rs781839243 0.00002
NM_000291.4(PGK1):c.929G>A (p.Gly310Asp) rs201238498 0.00002
NM_000291.4(PGK1):c.44A>G (p.Lys15Arg) rs2078257877
NM_000291.4(PGK1):c.937-17dup rs782576397

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