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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP
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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