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: 26

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HGVS	dbSNP	gnomAD frequency
NM_004130.4(GYG1):c.304G>C (p.Asp102His)	rs143137713	0.00109
NM_004130.4(GYG1):c.143+3G>C	rs370652040	0.00016
NM_004130.4(GYG1):c.646C>T (p.Arg216Ter)	rs777291159	0.00002
NM_004130.4(GYG1):c.384G>A (p.Trp128Ter)	rs774778687	0.00001
NM_004130.4(GYG1):c.631del (p.Val211fs)	rs1429663478	0.00001
NM_004130.4(GYG1):c.82C>T (p.Gln28Ter)	rs938753170	0.00001
NM_004130.4(GYG1):c.844_845insG (p.Tyr282Ter)	rs768834390	0.00001
NM_004130.4(GYG1):c.970C>T (p.Arg324Ter)	rs727502869	0.00001
NC_000003.11:g.(?_148709428)_(148709454_?)del
NC_000003.12:g.148996742del	rs2472710376
NM_004130.4(GYG1):c.10C>T (p.Gln4Ter)	rs745345009
NM_004130.4(GYG1):c.154G>T (p.Glu52Ter)	rs1559834349
NM_004130.4(GYG1):c.221T>A (p.Leu74Ter)	rs2472709427
NM_004130.4(GYG1):c.248C>T (p.Thr83Met)	rs267606858
NM_004130.4(GYG1):c.26dup (p.Thr10fs)	rs985019447
NM_004130.4(GYG1):c.352_353del (p.Glu118fs)	rs753901064
NM_004130.4(GYG1):c.438C>A (p.Tyr146Ter)
NM_004130.4(GYG1):c.487del (p.Asp163fs)	rs727502871
NM_004130.4(GYG1):c.490C>T (p.Gln164Ter)	rs2472732399
NM_004130.4(GYG1):c.683del (p.Thr228fs)	rs747627650
NM_004130.4(GYG1):c.749G>A (p.Trp250Ter)	rs727502870
NM_004130.4(GYG1):c.773dup (p.Leu258fs)
NM_004130.4(GYG1):c.819T>A (p.Tyr273Ter)	rs1714533252
NM_004130.4(GYG1):c.832dup (p.Ser278fs)	rs760872938
NM_004130.4(GYG1):c.844dup (p.Tyr282fs)	rs1714655118
NM_004130.4(GYG1):c.93dup (p.Thr32fs)	rs1559995920

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