ClinVar Miner

List of variants in gene GLDC reported as uncertain significance for not specified

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Gene type:
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_000170.3(GLDC):c.1000T>C (p.Phe334Leu) rs149133229 0.00031
NM_000170.3(GLDC):c.2378A>T (p.Asp793Val) rs150833015 0.00009
NM_000170.3(GLDC):c.661G>A (p.Val221Ile) rs144043066 0.00007
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu) rs201135624 0.00006
NM_000170.3(GLDC):c.1525C>G (p.Pro509Ala) rs557412758 0.00001
NM_000170.3(GLDC):c.1664T>G (p.Leu555Arg) rs765384489 0.00001
NM_000170.3(GLDC):c.2324A>G (p.His775Arg) rs386833555 0.00001
NM_000170.3(GLDC):c.2938A>G (p.Asn980Asp) rs772574530 0.00001
NM_000170.3(GLDC):c.505T>C (p.Ser169Pro) rs1356375715 0.00001
GRCh37/hg19 9p24.1(chr9:6566286-6619824)
GRCh37/hg19 9p24.1(chr9:6581048-6655056)
GRCh37/hg19 9p24.1(chr9:6581048-6655714)
NC_000009.11:g.(6565430_6587140)_(6645693_?)dup
NM_000170.3(GLDC):c.1100C>T (p.Thr367Ile) rs1183976692
NM_000170.3(GLDC):c.1420G>A (p.Glu474Lys) rs1554646962
NM_000170.3(GLDC):c.1831G>C (p.Val611Leu) rs1554646513
NM_000170.3(GLDC):c.1846A>G (p.Asn616Asp) rs2129831435
NM_000170.3(GLDC):c.2315+6T>C rs1817582202
NM_000170.3(GLDC):c.2606_2607delinsTA (p.Pro869Leu)
NM_000170.3(GLDC):c.2838+5G>A rs386833568
NM_000170.3(GLDC):c.2969A>C (p.Asp990Ala)
NM_000170.3(GLDC):c.635G>A (p.Arg212Lys) rs386833584
NM_000170.3(GLDC):c.937G>T (p.Ala313Ser)

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