ClinVar Miner

List of variants in gene PFKM reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 59
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HGVS dbSNP
NM_000289.6(PFKM):c.*134G>A rs886049456
NM_000289.6(PFKM):c.*3C>T rs367783282
NM_000289.6(PFKM):c.*411G>A
NM_000289.6(PFKM):c.*452T>C
NM_000289.6(PFKM):c.*489T>A rs886049457
NM_000289.6(PFKM):c.*503G>T rs747797192
NM_000289.6(PFKM):c.*532A>G
NM_000289.6(PFKM):c.*564G>A
NM_000289.6(PFKM):c.*622G>A rs568063197
NM_000289.6(PFKM):c.*668G>T
NM_000289.6(PFKM):c.*98G>A rs886049455
NM_000289.6(PFKM):c.-17G>C
NM_000289.6(PFKM):c.1005A>G (p.Val335=) rs1454843075
NM_000289.6(PFKM):c.1033C>T (p.Arg345Cys) rs762357629
NM_000289.6(PFKM):c.1063-5C>T rs758178966
NM_000289.6(PFKM):c.1063-6C>A
NM_000289.6(PFKM):c.1063-7C>T rs776228408
NM_000289.6(PFKM):c.1109C>G (p.Ala370Gly) rs531875148
NM_000289.6(PFKM):c.1114A>G (p.Lys372Glu)
NM_000289.6(PFKM):c.1115A>G (p.Lys372Arg)
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln) rs187131358
NM_000289.6(PFKM):c.1192-3_1192-2del
NM_000289.6(PFKM):c.1242C>G (p.Gly414=) rs886049454
NM_000289.6(PFKM):c.1295G>A (p.Arg432Gln)
NM_000289.6(PFKM):c.1303G>A (p.Val435Ile) rs774425888
NM_000289.6(PFKM):c.139C>T (p.Arg47Cys) rs774921979
NM_000289.6(PFKM):c.140G>A (p.Arg47His)
NM_000289.6(PFKM):c.1648T>C (p.Cys550Arg)
NM_000289.6(PFKM):c.1727A>T (p.Tyr576Phe) rs370424471
NM_000289.6(PFKM):c.1770C>T (p.Ala590=) rs751097669
NM_000289.6(PFKM):c.1946A>G (p.Lys649Arg) rs199528011
NM_000289.6(PFKM):c.1992+5G>A
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971
NM_000289.6(PFKM):c.2121G>A (p.Ser707=) rs370046842
NM_000289.6(PFKM):c.2126G>A (p.Cys709Tyr)
NM_000289.6(PFKM):c.2201A>G (p.His734Arg) rs141570669
NM_000289.6(PFKM):c.2219A>G (p.Gln740Arg)
NM_000289.6(PFKM):c.2274C>G (p.Asp758Glu)
NM_000289.6(PFKM):c.2282C>G (p.Thr761Ser) rs1592832922
NM_000289.6(PFKM):c.335A>G (p.Asn112Ser) rs1592727517
NM_000289.6(PFKM):c.360C>T (p.Gly120=) rs886049453
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr) rs140473672
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737
NM_000289.6(PFKM):c.514A>G (p.Thr172Ala)
NM_000289.6(PFKM):c.59T>C (p.Val20Ala) rs755992543
NM_000289.6(PFKM):c.634T>C (p.Cys212Arg)
NM_000289.6(PFKM):c.638+15C>A rs376150217
NM_000289.6(PFKM):c.71G>C (p.Gly24Ala)
NM_000289.6(PFKM):c.722A>G (p.Glu241Gly)
NM_000289.6(PFKM):c.820A>G (p.Ile274Val) rs142868881
NM_000289.6(PFKM):c.846G>A (p.Leu282=)
NM_000289.6(PFKM):c.864A>G (p.Gly288=)
NM_000289.6(PFKM):c.935T>C (p.Leu312Pro)
NM_000289.6(PFKM):c.965T>C (p.Met322Thr)
NM_000289.6(PFKM):c.978G>A (p.Glu326=) rs550083752
NM_001166686.2(PFKM):c.206-3416C>T rs886049452
NM_001166686.2(PFKM):c.206-3526G>A rs765876195
NM_001166686.2(PFKM):c.206-3528C>T rs886049451
NM_001166686.2(PFKM):c.206-3529G>C rs78512814

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