ClinVar Miner

List of variants in gene PGK1 reported as likely benign for not provided

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Gene type:
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Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_000291.4(PGK1):c.1214-178C>T rs138797609 0.02738
NM_000291.4(PGK1):c.1213+167C>T rs150219676 0.01251
NC_000023.11:g.78104207G>C rs182927805 0.00426
NM_000291.4(PGK1):c.641+51A>G rs144954339 0.00312
NM_000291.4(PGK1):c.116+49C>T rs373135293 0.00265
NM_000291.4(PGK1):c.273-27A>G rs138345294 0.00115
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.1048C>T (p.Arg350Trp) rs183087139 0.00076
NM_000291.4(PGK1):c.832G>A (p.Val278Met) rs199571497 0.00007
NM_000291.4(PGK1):c.846G>C (p.Leu282Phe) rs782668224 0.00007
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.375T>A (p.His125Gln) rs142134146 0.00006
NM_000291.4(PGK1):c.1188T>A (p.Gly396=) rs782667719 0.00005
NM_000291.4(PGK1):c.1243A>G (p.Ser415Gly) rs929302665 0.00005
NM_000291.4(PGK1):c.116+8C>T rs369581587 0.00004
NM_000291.4(PGK1):c.238C>T (p.Pro80Ser) rs782084984 0.00002
NM_000291.4(PGK1):c.929G>A (p.Gly310Asp) rs201238498 0.00002
NM_000291.4(PGK1):c.1122A>G (p.Gly374=) rs782820672 0.00001
NM_000291.4(PGK1):c.295T>C (p.Cys99Arg) rs781899954 0.00001
NM_000291.4(PGK1):c.757-9C>T rs782105365 0.00001
NM_000291.4(PGK1):c.978G>A (p.Glu326=) rs782002575 0.00001
NC_000023.11:g.78104069T>A rs150921338
NC_000023.11:g.78104244C>G rs187835265
NM_000291.4(PGK1):c.1114+15A>C
NM_000291.4(PGK1):c.1114+16_1114+17insTACACTTGATCTTAGCCAAAAGGCCGAGAAGCGATATAAGCGGTCCTATAC
NM_000291.4(PGK1):c.1119T>G (p.Gly373=)
NM_000291.4(PGK1):c.1125C>T (p.Asp375=)
NM_000291.4(PGK1):c.1146A>G (p.Lys382=)
NM_000291.4(PGK1):c.1152C>T (p.Asn384=)
NM_000291.4(PGK1):c.1154C>T (p.Thr385Met)
NM_000291.4(PGK1):c.1155G>A (p.Thr385=)
NM_000291.4(PGK1):c.116+10C>T
NM_000291.4(PGK1):c.116+12G>C
NM_000291.4(PGK1):c.117-15T>C
NM_000291.4(PGK1):c.1185G>A (p.Gly395=)
NM_000291.4(PGK1):c.1213+15T>G
NM_000291.4(PGK1):c.1214-18G>A
NM_000291.4(PGK1):c.1214-20G>A
NM_000291.4(PGK1):c.1214-22_1214-19del rs1557248618
NM_000291.4(PGK1):c.1236T>C (p.Asp412=)
NM_000291.4(PGK1):c.126T>C (p.Ala42=)
NM_000291.4(PGK1):c.132C>G (p.Val44=)
NM_000291.4(PGK1):c.15C>T (p.Asn5=) rs782429511
NM_000291.4(PGK1):c.207T>C (p.Gly69=) rs2149132111
NM_000291.4(PGK1):c.210G>A (p.Val70=)
NM_000291.4(PGK1):c.231C>T (p.Ser77=)
NM_000291.4(PGK1):c.237G>A (p.Glu79=)
NM_000291.4(PGK1):c.240A>G (p.Pro80=) rs1603397303
NM_000291.4(PGK1):c.24G>T (p.Thr8=)
NM_000291.4(PGK1):c.265C>T (p.Leu89=)
NM_000291.4(PGK1):c.351C>T (p.Ile117=)
NM_000291.4(PGK1):c.375T>C (p.His125=) rs142134146
NM_000291.4(PGK1):c.39C>T (p.Asp13=)
NM_000291.4(PGK1):c.417+13A>G
NM_000291.4(PGK1):c.418-12T>C
NM_000291.4(PGK1):c.418-4A>G
NM_000291.4(PGK1):c.426C>T (p.Ala142=)
NM_000291.4(PGK1):c.641+10A>G
NM_000291.4(PGK1):c.642-4G>T
NM_000291.4(PGK1):c.65+12C>T
NM_000291.4(PGK1):c.65+19C>T
NM_000291.4(PGK1):c.65+7C>T
NM_000291.4(PGK1):c.66-10T>G
NM_000291.4(PGK1):c.66-8T>C
NM_000291.4(PGK1):c.750C>T (p.Asn250=)
NM_000291.4(PGK1):c.756+15C>T
NM_000291.4(PGK1):c.757-10C>A
NM_000291.4(PGK1):c.757-10C>T
NM_000291.4(PGK1):c.757-14G>A
NM_000291.4(PGK1):c.757-15G>T
NM_000291.4(PGK1):c.757-3dup
NM_000291.4(PGK1):c.757-6G>T
NM_000291.4(PGK1):c.780A>G (p.Glu260=)
NM_000291.4(PGK1):c.798C>G (p.Val266=)
NM_000291.4(PGK1):c.843C>T (p.Thr281=)
NM_000291.4(PGK1):c.914C>G (p.Ser305Cys)
NM_000291.4(PGK1):c.924T>G (p.Pro308=)
NM_000291.4(PGK1):c.933G>T (p.Trp311Cys)
NM_000291.4(PGK1):c.936+18G>A
NM_000291.4(PGK1):c.936+18G>C
NM_000291.4(PGK1):c.936+19T>A
NM_000291.4(PGK1):c.937-17dup rs782576397
NM_000291.4(PGK1):c.942G>A (p.Leu314=)

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