ClinVar Miner

List of variants reported as likely pathogenic for disorder of glycolysis by Baylor Genetics

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter) rs374547385 0.00004
NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly) rs137853245 0.00003
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln) rs187131358 0.00001
NM_000289.6(PFKM):c.1191+1G>A rs746348793 0.00001
NM_000289.6(PFKM):c.1294C>T (p.Arg432Ter) rs41291965 0.00001
NM_000289.6(PFKM):c.1413-2A>G rs1430517061 0.00001
NM_000162.5(GCK):c.1155del (p.Leu386fs) rs1400535021
NM_000162.5(GCK):c.391T>C (p.Ser131Pro) rs104894010
NM_000289.6(PFKM):c.-8-2A>G
NM_000289.6(PFKM):c.1042del (p.Leu348fs)
NM_000289.6(PFKM):c.1128-2A>G
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter) rs1064795749
NM_000289.6(PFKM):c.116G>A (p.Arg39Gln)
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro) rs121918193
NM_000289.6(PFKM):c.1280_1290del (p.Leu427fs)
NM_000289.6(PFKM):c.1282dup (p.Ile428fs)
NM_000289.6(PFKM):c.1338del (p.Gln447fs) rs2135995131
NM_000289.6(PFKM):c.1341+1G>A
NM_000289.6(PFKM):c.1413-64A>G rs1202417178
NM_000289.6(PFKM):c.1459_1463del (p.Thr486_Lys487insTer)
NM_000289.6(PFKM):c.1500+2T>A
NM_000289.6(PFKM):c.159+1G>T rs1305706304
NM_000289.6(PFKM):c.160-1G>C
NM_000289.6(PFKM):c.1607del (p.Gly535_Ser536insTer) rs866260025
NM_000289.6(PFKM):c.1614dup (p.Ser539fs)
NM_000289.6(PFKM):c.1620_1625delinsGGGGG (p.Ala542fs)
NM_000289.6(PFKM):c.166C>T (p.Gln56Ter)
NM_000289.6(PFKM):c.1717_1718del (p.Met573fs)
NM_000289.6(PFKM):c.1807C>T (p.Arg603Ter)
NM_000289.6(PFKM):c.1876_1880+2del
NM_000289.6(PFKM):c.1905T>A (p.Tyr635Ter)
NM_000289.6(PFKM):c.2080_2081del (p.Ser694fs) rs1233958453
NM_000289.6(PFKM):c.2175del (p.Glu725fs)
NM_000289.6(PFKM):c.238-3A>G
NM_000289.6(PFKM):c.395G>A (p.Trp132Ter)
NM_000289.6(PFKM):c.420del (p.Ala142fs)
NM_000289.6(PFKM):c.491_500del (p.Ser164fs)
NM_000289.6(PFKM):c.539C>G (p.Ser180Cys)
NM_000289.6(PFKM):c.702dup (p.Pro235fs)
NM_000289.6(PFKM):c.736C>T (p.Arg246Ter) rs866904446
NM_000289.6(PFKM):c.779_783delinsC (p.Ile260fs)
NM_000289.6(PFKM):c.811G>T (p.Gly271Ter)
NM_000289.6(PFKM):c.85+1G>A
NM_000289.6(PFKM):c.86-1G>C
NM_000289.6(PFKM):c.877dup (p.Val293fs)
NM_000289.6(PFKM):c.936+2T>G
NM_000458.4(HNF1B):c.395A>G (p.His132Arg)

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