ClinVar Miner

List of variants reported as benign 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: 13
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NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg) rs200294882
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311
NM_000152.5(GAA):c.2478G>A (p.Leu826=) rs201183207
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536
NM_000152.5(GAA):c.547-39T>G rs12452721
NM_000203.5(IDUA):c.1174C>T (p.Leu392=) rs201682298
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro) rs397514333

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