ClinVar Miner

List of variants studied for non-spherocytic hemolytic anemia due to hexokinase deficiency

Included ClinVar conditions (3):
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001358263.1(HK1):c.75+5174A>G rs906220 0.89921
NM_000188.3(HK1):c.1443G>A (p.Lys481=) rs748235 0.80224
NM_000188.3(HK1):c.1839+31G>A rs749105 0.70672
NM_000188.3(HK1):c.2219+27T>C rs2278745 0.56586
NM_000188.3(HK1):c.78C>G (p.Leu26=) rs1133189 0.36523
NM_000188.3(HK1):c.1031+6T>C rs57012387 0.01704
NM_001358263.1(HK1):c.53T>C (p.Leu18Pro) rs79002951 0.00265
NM_001358263.1(HK1):c.75+20082A>G rs187500777 0.00198
NM_000188.3(HK1):c.949G>A (p.Gly317Ser) rs202028638 0.00002
NM_000188.3(HK1):c.2039C>G (p.Thr680Ser) rs398122379 0.00001
NM_000188.3(HK1):c.2165G>A (p.Arg722Lys) rs1172702857 0.00001
NM_000188.3(HK1):c.2519C>T (p.Ala840Val) rs373871387 0.00001
NM_000188.3(HK1):c.281G>A (p.Arg94Gln) rs1176654400 0.00001
NM_001358263.1(HK1):c.75+20308C>T rs756166032 0.00001
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) rs1064794848
NM_000188.3(HK1):c.1354G>C (p.Gly452Arg) rs2132884703
NM_000188.3(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_000188.3(HK1):c.1586T>C (p.Leu529Ser) rs137853249
NM_000188.3(HK1):c.2498T>C (p.Leu833Pro)
NM_000188.3(HK1):c.497_591+1del
NM_001358263.1(HK1):c.-270G>C rs397514654
NM_001358263.1(HK1):c.1A>T (p.Met1Leu) rs1589439508
NM_001358263.1(HK1):c.75+20336T>A rs769395943
NM_001358263.1(HK1):c.75+23T>C rs4746837

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