ClinVar Miner

List of variants in gene GLDC reported by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000170.3(GLDC):c.2203-19G>A rs13440229 0.01223
NM_000170.3(GLDC):c.2380G>A (p.Ala794Thr) rs141933811 0.00728
NM_000170.3(GLDC):c.2203G>T (p.Val735Leu) rs143119940 0.00650
NM_000170.3(GLDC):c.2919+3A>G rs73639325 0.00620
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr) rs151268759 0.00419
NM_000170.3(GLDC):c.2053-5C>G rs140877566 0.00278
NM_000170.3(GLDC):c.1750C>T (p.Pro584Ser) rs1001664445 0.00002
NM_000170.3(GLDC):c.2791G>A (p.Ala931Thr) rs1057520185

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