ClinVar Miner

List of variants in gene PFKM reported as benign for anemia due to erythrocyte enzyme disorder

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_000289.6(PFKM):c.*163G>A
NM_000289.6(PFKM):c.*282C>T
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513
NM_000289.6(PFKM):c.1342-14G>T rs56117548
NM_000289.6(PFKM):c.1401T>C (p.Leu467=) rs554664722
NM_000289.6(PFKM):c.1500+32C>T rs41291967
NM_000289.6(PFKM):c.2040C>T (p.Gly680=) rs369893708
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971
NM_000289.6(PFKM):c.2093-14A>G rs11168427
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501
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.453G>A (p.Thr151=) rs144370737
NM_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392
NM_000289.6(PFKM):c.702A>T (p.Pro234=) rs138022863
NM_000289.6(PFKM):c.888G>A (p.Leu296=) rs753083173
NM_001166686.2(PFKM):c.206-3464T>G rs12306290

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