ClinVar Miner

List of variants reported as uncertain significance for carbohydrate metabolism disease by Broad Institute Rare Disease Group, Broad Institute

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP
NM_000152.5(GAA):c.1048G>A (p.Val350Met) rs200412003
NM_000152.5(GAA):c.1124G>A (p.Arg375His) rs142752477
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln) rs2229224
NM_000152.5(GAA):c.1310G>A (p.Arg437His) rs150868652
NM_000152.5(GAA):c.1324G>A (p.Val442Met) rs377559348
NM_000152.5(GAA):c.1326+1G>A rs1205507761
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn) rs535644999
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys) rs771213237
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe) rs886043148
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275
NM_000152.5(GAA):c.1504A>G (p.Met502Val) rs376067362
NM_000152.5(GAA):c.1562A>T (p.Glu521Val)
NM_000152.5(GAA):c.1626C>G (p.Pro542=) rs947585663
NM_000152.5(GAA):c.1704C>G (p.His568Gln)
NM_000152.5(GAA):c.1719C>A (p.Asn573Lys)
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp) rs770983413
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp) rs1057517105
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn)
NM_000152.5(GAA):c.197G>A (p.Arg66Gln) rs200202628
NM_000152.5(GAA):c.2284G>A (p.Glu762Lys) rs760063214
NM_000152.5(GAA):c.2395C>T (p.His799Tyr) rs143347747
NM_000152.5(GAA):c.2528T>C (p.Leu843Pro)
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324
NM_000152.5(GAA):c.2815_2816del (p.Val939fs) rs763359208
NM_000152.5(GAA):c.503G>A (p.Arg168Gln) rs376685205
NM_000152.5(GAA):c.533G>A (p.Arg178His) rs762267535
NM_000152.5(GAA):c.710C>T (p.Ala237Val) rs121907944
NM_000152.5(GAA):c.861C>T (p.Pro287=) rs778580823
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887
NM_000203.5(IDUA):c.191_192del (p.Tyr64fs) rs794727240
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro) rs752337969
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722

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