ClinVar Miner

List of variants in gene GYG1 reported as pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (161):
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Gene type:
ClinVar version:
Total variants: 10
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GYG1, 1-BP DEL, 487G
NM_001184721.1(GYG1):c.609-2567G>A rs727502870
NM_004130.3(GYG1):c.143+3G>C rs370652040
NM_004130.3(GYG1):c.154G>T (p.Glu52Ter) rs1559834349
NM_004130.3(GYG1):c.248C>T (p.Thr83Met) rs267606858
NM_004130.3(GYG1):c.304G>C (p.Asp102His) rs143137713
NM_004130.3(GYG1):c.487del (p.Asp163fs) rs727502871
NM_004130.3(GYG1):c.970C>T (p.Arg324Ter) rs727502869
NM_004130.4(GYG1):c.631del (p.Val211fs)
NM_004130.4(GYG1):c.819T>A (p.Tyr273Ter)

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