ClinVar Miner

List of variants in gene GALE reported as pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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NM_001008216.2(GALE):c.101A>G (p.Asn34Ser) rs121908046
NM_001008216.2(GALE):c.269G>A (p.Gly90Glu) rs28940882
NM_001008216.2(GALE):c.280G>A (p.Val94Met) rs121908047
NM_001008216.2(GALE):c.308A>G (p.Asp103Gly) rs28940883
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp) rs137853859
NM_001008216.2(GALE):c.548T>C (p.Leu183Pro) rs121908045
NM_001008216.2(GALE):c.715C>T (p.Arg239Trp) rs137853860
NM_001008216.2(GALE):c.749del (p.Gly250fs) rs1570630665
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884
NM_001008216.2(GALE):c.905G>A (p.Gly302Asp) rs137853861
NM_001008216.2(GALE):c.937C>A (p.Leu313Met) rs3180383
NM_001008216.2(GALE):c.956G>A (p.Gly319Glu) rs28940885

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