ClinVar Miner

List of variants studied for disorder of glycolysis by Genome-Nilou Lab

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) rs1169305 0.98610
NM_001715.3(BLK):c.176-104G>A rs6994605 0.90656
NM_001358263.1(HK1):c.75+5174A>G rs906220 0.89921
NM_001354735.1(PFKM):c.226C>A (p.Gln76Lys) rs4760682 0.86945
NM_001715.3(BLK):c.843T>C (p.Phe281=) rs2306234 0.81190
NM_000188.3(HK1):c.1443G>A (p.Lys481=) rs748235 0.80224
NM_000289.6(PFKM):c.1880+27A>G rs4075913 0.78311
NM_000545.8(HNF1A):c.1623+29T>C rs1169304 0.75160
NM_000188.3(HK1):c.1839+31G>A rs749105 0.70672
NM_002500.5(NEUROD1):c.133A>G (p.Thr45Ala) rs1801262 0.67693
NM_053013.4(ENO3):c.212A>G (p.Asn71Ser) rs238238 0.65415
NM_005566.4(LDHA):c.483C>T (p.Ser161=) rs4687 0.64502
NM_005566.4(LDHA):c.519A>G (p.Leu173=) rs4820 0.64482
NM_000207.3(INS):c.*22A>C rs3842753 0.59307
NM_000188.3(HK1):c.2219+27T>C rs2278745 0.56586
NM_001715.3(BLK):c.-1-105C>G rs12386974 0.55690
NM_001243177.4(ALDOA):c.142-63G>C rs9783783 0.52268
NM_001715.3(BLK):c.330T>C (p.Ser110=) rs3816668 0.49161
NM_053013.4(ENO3):c.254T>C (p.Val85Ala) rs238239 0.43006
NM_000545.8(HNF1A):c.51C>G (p.Leu17=) rs1169289 0.42543
NM_001715.3(BLK):c.-1-53G>A rs2245250 0.41844
NM_001715.3(BLK):c.1313-28C>T rs10097015 0.41687
NM_001715.3(BLK):c.123+88G>T rs2245232 0.41611
NM_001715.3(BLK):c.1030-38C>T rs4841561 0.38972
NM_000188.3(HK1):c.78C>G (p.Leu26=) rs1133189 0.36523
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) rs1169288 0.35489
NM_000545.8(HNF1A):c.1501+7G>A rs2464195 0.30441
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716 0.28514
NM_000291.4(PGK1):c.522-24C>T rs2007039 0.26980
NM_000545.8(HNF1A):c.527-23C>T rs1169301 0.26300
NM_000545.8(HNF1A):c.1460G>A (p.Ser487Asn) rs2464196 0.26206
NM_000545.8(HNF1A):c.1375C>T (p.Leu459=) rs2259820 0.26141
NM_001166686.2(PFKM):c.5A>T (p.His2Leu) rs11609399 0.21767
NM_005566.4(LDHA):c.348C>A (p.Ile116=) rs6498 0.12798
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971 0.01088
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=) rs147623093 0.00083
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737 0.00071
NM_000289.6(PFKM):c.722A>G (p.Glu241Gly) rs148544344 0.00005
NM_000352.6(ABCC8):c.3463G>A (p.Val1155Ile) rs759961510 0.00004
NM_000289.6(PFKM):c.1255G>A (p.Val419Ile) rs1266995508
NM_000289.6(PFKM):c.2108A>T (p.Asn703Ile) rs1950938419
NM_000545.8(HNF1A):c.1309+86TCAT[6] rs58371019
NM_001354735.1(PFKM):c.53G>T (p.Arg18Leu) rs193298317
NM_001358263.1(HK1):c.75+23T>C rs4746837

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