ClinVar Miner

List of variants studied for anemia due to erythrocyte enzyme disorder by Genome-Nilou Lab

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001358263.1(HK1):c.75+5174A>G rs906220 0.89921
NM_001354735.1(PFKM):c.226C>A (p.Gln76Lys) rs4760682 0.86945
NM_000188.3(HK1):c.1443G>A (p.Lys481=) rs748235 0.80224
NM_000289.6(PFKM):c.1880+27A>G rs4075913 0.78311
NM_000188.3(HK1):c.1839+31G>A rs749105 0.70672
NM_000188.3(HK1):c.2219+27T>C rs2278745 0.56586
NM_001243177.4(ALDOA):c.142-63G>C rs9783783 0.52268
NM_000375.3(UROS):c.561+19C>T rs2281954 0.43234
NM_000375.3(UROS):c.562-26C>T rs3740179 0.43206
NM_000188.3(HK1):c.78C>G (p.Leu26=) rs1133189 0.36523
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716 0.28514
NM_001166686.2(PFKM):c.5A>T (p.His2Leu) rs11609399 0.21767
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971 0.01088
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737 0.00071
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000289.6(PFKM):c.722A>G (p.Glu241Gly) rs148544344 0.00005
NM_000289.6(PFKM):c.1255G>A (p.Val419Ile) rs1266995508
NM_000289.6(PFKM):c.2108A>T (p.Asn703Ile) rs1950938419
NM_001354735.1(PFKM):c.53G>T (p.Arg18Leu) rs193298317
NM_001358263.1(HK1):c.75+23T>C rs4746837

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