ClinVar Miner

List of variants reported as pathogenic for monogenic diabetes by Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000162.5(GCK):c.106C>T (p.Arg36Trp) rs762263694 0.00003
NM_000162.5(GCK):c.1364T>A (p.Val455Glu) rs753795627 0.00001
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934 0.00001
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys) rs1167124132
NM_000162.5(GCK):c.485G>A (p.Gly162Asp) rs1170194230
NM_000162.5(GCK):c.680-2A>G rs1562715657
NM_000162.5(GCK):c.781G>A (p.Gly261Arg) rs104894008
NM_000352.6(ABCC8):c.3753+1G>A rs1554906786
NM_000545.5(HNF1A):c.598C>T (p.Arg200Trp) rs193922598
NM_000545.8(HNF1A):c.1137del (p.Val380fs) rs1555212248
NM_000545.8(HNF1A):c.511C>T (p.Arg171Ter) rs1057520291
NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter) rs754728827
NM_000545.8(HNF1A):c.872dup (p.Gly292fs) rs587776825

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