ClinVar Miner

List of variants studied for glucose metabolism disease by Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp) rs35155575 0.00151
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669 0.00072
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_000209.4(PDX1):c.651del (p.Gly218fs) rs776610329 0.00001
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715 0.00001
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys) rs1167124132
NM_000162.5(GCK):c.397T>C (p.Phe133Leu) rs2128822093
NM_000162.5(GCK):c.485G>A (p.Gly162Asp) rs1170194230
NM_000162.5(GCK):c.679G>C (p.Gly227Arg)
NM_000162.5(GCK):c.680-2A>G rs1562715657
NM_000162.5(GCK):c.781G>A (p.Gly261Arg) rs104894008
NM_000162.5(GCK):c.82G>A (p.Glu28Lys) rs2128823215
NM_000207.3(INS):c.115C>T (p.Leu39Phe) rs2133676660
NM_000208.4(INSR):c.3196C>T (p.Arg1066Ter)
NM_000208.4(INSR):c.3610G>A (p.Ala1204Thr)
NM_000352.6(ABCC8):c.3753+1G>A rs1554906786
NM_000352.6(ABCC8):c.3827_3828del (p.Ser1276fs)
NM_000525.4(KCNJ11):c.161G>A (p.Arg54His) rs587783666
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.827C>A (p.Ala276Asp) rs137853245
NM_000545.8(HNF1A):c.872dup (p.Gly292fs) rs587776825
NM_001807.6(CEL):c.383C>T (p.Ala128Val) rs960508990
NM_003355.3(UCP2):c.685A>G (p.Thr229Ala) rs2135363060
NM_175914.5(HNF4A):c.270C>G (p.Cys90Trp)
NM_175914.5(HNF4A):c.47dup (p.Tyr16Ter) rs2146127847
NM_175914.5(HNF4A):c.965T>G (p.Leu322Trp) rs2146468795

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