ClinVar Miner

List of variants in gene GALK1, ITGB4 studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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NM_000154.2(GALK1):c.1119C>T (p.Gly373=) rs73997615
NM_000213.5(ITGB4):c.*25C>T rs9367
NM_000213.5(ITGB4):c.*4C>T rs189610725
NM_000213.5(ITGB4):c.4521C>G (p.Pro1507=) rs8669
NM_000213.5(ITGB4):c.5054-15A>G rs8078247
NM_000213.5(ITGB4):c.5179_5200del (p.Pro1726_Glu1727insTer) rs759412123
NM_000213.5(ITGB4):c.5218+2T>C rs780675808
NM_000213.5(ITGB4):c.5247_5251del (p.Gly1750fs) rs1555746537
NM_000213.5(ITGB4):c.5336T>C (p.Leu1779Pro) rs871443
NM_000213.5(ITGB4):c.5350C>T (p.Gln1784Ter) rs1443010160

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