ClinVar Miner

List of variants in gene GLDC reported as likely pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000170.2(GLDC):c.1166C>T (p.Ala389Val) rs121964979
NM_000170.2(GLDC):c.1579_1581del (p.Ser527del) rs1563849699
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000170.2(GLDC):c.1952A>G (p.His651Arg) rs386833536
NM_000170.2(GLDC):c.2293C>T (p.Pro765Ser) rs386833551
NM_000170.2(GLDC):c.2474G>A (p.Gly825Asp) rs906049409
NM_000170.2(GLDC):c.2607dup (p.Phe870fs) rs1554642300
NM_000170.2(GLDC):c.2919+5G>T rs768091555

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