ClinVar Miner

List of variants in gene GLDC reported as pathogenic by Counsyl

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Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000170.2(GLDC):c.1009C>T (p.Arg337Ter) rs386833517
NM_000170.2(GLDC):c.1270C>T (p.Arg424Ter) rs386833521
NM_000170.2(GLDC):c.1580+2T>G rs1554646710
NM_000170.2(GLDC):c.1888C>T (p.Arg630Ter) rs751025203
NM_000170.2(GLDC):c.2203-2A>G rs386833545
NM_000170.2(GLDC):c.2316-1G>A rs386833554
NM_000170.2(GLDC):c.24G>A (p.Trp8Ter) rs1163356968
NM_000170.2(GLDC):c.2614A>T (p.Lys872Ter) rs1430968530
NM_000170.2(GLDC):c.2919+1G>A rs386833575
NM_000170.2(GLDC):c.334+1G>T rs978795483

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