ClinVar Miner

List of variants reported as likely pathogenic for pyruvate metabolism disorder by Geisinger Clinic, Geisinger Health System

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu) rs1286294151 0.00001
NM_175914.5(HNF4A):c.625G>A (p.Gly209Arg) rs1469544671 0.00001
NM_175914.5(HNF4A):c.926G>A (p.Arg309His) rs369429452 0.00001
NM_000162.5(GCK):c.122T>G (p.Met41Arg)
NM_000162.5(GCK):c.1264C>T (p.Arg422Trp)
NM_000162.5(GCK):c.1322C>T (p.Ser441Leu) rs1286804191
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) rs193922283
NM_000162.5(GCK):c.391T>C (p.Ser131Pro) rs104894010
NM_000162.5(GCK):c.461T>C (p.Val154Ala)
NM_000162.5(GCK):c.878T>C (p.Ile293Thr) rs2128820046
NM_000162.5(GCK):c.878T>G (p.Ile293Arg)
NM_000162.5(GCK):c.917T>C (p.Leu306Pro) rs193922337
NM_000162.5(GCK):c.98T>C (p.Val33Ala) rs1554335954
NM_000545.8(HNF1A):c.1193A>C (p.Gln398Pro)
NM_000545.8(HNF1A):c.1469T>G (p.Met490Arg)
NM_000545.8(HNF1A):c.194G>A (p.Gly65Glu) rs2135819938
NM_000545.8(HNF1A):c.343G>T (p.Val115Leu) rs1876667856
NM_175914.5(HNF4A):c.469A>C (p.Lys157Gln)
NM_175914.5(HNF4A):c.530T>C (p.Val177Ala) rs2146417574
NM_175914.5(HNF4A):c.614A>C (p.His205Pro) rs2146438016
NM_175914.5(HNF4A):c.787G>C (p.Glu263Gln)
NM_175914.5(HNF4A):c.823C>T (p.Pro275Ser)
NM_175914.5(HNF4A):c.926G>T (p.Arg309Leu) rs369429452
NM_175914.5(HNF4A):c.932G>A (p.Arg311His) rs1375557127

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