ClinVar Miner

List of variants in gene PFKM studied for anemia due to erythrocyte enzyme disorder

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 52
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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.*489T>A rs886049457
NM_000289.6(PFKM):c.*503G>T rs747797192
NM_000289.6(PFKM):c.*622G>A rs568063197
NM_000289.6(PFKM):c.*98G>A rs886049455
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.1063-7C>T rs776228408
NM_000289.6(PFKM):c.1109C>G (p.Ala370Gly)
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln) rs187131358
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro) rs121918193
NM_000289.6(PFKM):c.116G>T (p.Arg39Leu) rs121918193
NM_000289.6(PFKM):c.1191+1G>A
NM_000289.6(PFKM):c.1242C>G (p.Gly414=) rs886049454
NM_000289.6(PFKM):c.1303G>A (p.Val435Ile) rs774425888
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513
NM_000289.6(PFKM):c.1338_1339delinsAA (p.Gln447Lys) rs1555206566
NM_000289.6(PFKM):c.1341+1G>T
NM_000289.6(PFKM):c.1342-14G>T rs56117548
NM_000289.6(PFKM):c.1628A>C (p.Asp543Ala) rs121918194
NM_000289.6(PFKM):c.1727A>T (p.Tyr576Phe)
NM_000289.6(PFKM):c.1929_1933del (p.Leu643_Tyr644insTer)
NM_000289.6(PFKM):c.1946A>G (p.Lys649Arg) rs199528011
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000289.6(PFKM):c.2058G>T (p.Trp686Cys) rs121918196
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971
NM_000289.6(PFKM):c.2093-14A>G rs11168427
NM_000289.6(PFKM):c.2199-12A>G rs202008060
NM_000289.6(PFKM):c.2201A>G (p.His734Arg) rs141570669
NM_000289.6(PFKM):c.2282C>G (p.Thr761Ser)
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716
NM_000289.6(PFKM):c.237+1G>A rs202143236
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) rs121918195
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507
NM_000289.6(PFKM):c.335A>G (p.Asn112Ser)
NM_000289.6(PFKM):c.360C>T (p.Gly120=) rs886049453
NM_000289.6(PFKM):c.428-2A>C
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737
NM_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392
NM_000289.6(PFKM):c.59T>C (p.Val20Ala)
NM_000289.6(PFKM):c.638+15C>A rs376150217
NM_000289.6(PFKM):c.820A>G (p.Ile274Val) rs142868881
NM_001166686.2(PFKM):c.206-3416C>T rs886049452
NM_001166686.2(PFKM):c.206-3464T>G rs12306290
NM_001166686.2(PFKM):c.206-3523C>A rs41291959
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
PFKM, IVS5DS, G-A, +1

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