ClinVar Miner

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

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Total variants: 11
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GRCh37/hg19 9p24.1(chr9:6523010-6708344)x1
GRCh37/hg19 9p24.1(chr9:6542329-6611763)x1
GRCh37/hg19 9p24.1(chr9:6548392-6620059)x1
GRCh37/hg19 9p24.1(chr9:6556947-6679992)x1
GRCh37/hg19 9p24.1(chr9:6611112-6677371)x1
GRCh37/hg19 9p24.1(chr9:6631701-6679992)x1
NM_000170.2(GLDC):c.1009C>T (p.Arg337Ter) rs386833517
NM_000170.2(GLDC):c.1723G>T (p.Glu575Ter) rs1554646529
NM_000170.2(GLDC):c.2316-1G>A rs386833554
NM_000170.2(GLDC):c.2423_2426dup (p.Ile810fs) rs755313904
NM_000170.2(GLDC):c.2665+1G>C rs149070244

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