ClinVar Miner

List of variants reported as uncertain significance for carbohydrate metabolism disease by Research and Development, ARUP Laboratories

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_000155.4(GALT):c.1059+24G>A rs111033840
NM_000155.4(GALT):c.1087G>A (p.Glu363Lys) rs367543273
NM_000155.4(GALT):c.309G>A (p.Gln103=) rs367543253
NM_000155.4(GALT):c.508-29del rs111033711
NM_000155.4(GALT):c.630G>A (p.Lys210=) rs367543260
NM_000155.4(GALT):c.957C>T (p.His319=) rs111033792
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser) rs80338686
NM_001370658.1(BTD):c.506A>G (p.Asp169Gly) rs139829181
NM_001370658.1(BTD):c.572G>A (p.Arg191His) rs112195009
NM_001370658.1(BTD):c.68A>G (p.His23Arg) rs146011150
NM_001370658.1(BTD):c.755G>A (p.Trp252Ter) rs148031701
NM_001370658.1(BTD):c.986A>C (p.Asn329Thr) rs200327983

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