ClinVar Miner

List of variants in gene GLDC studied for not provided

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Gene type:
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Total variants: 40
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HGVS dbSNP
GRCh37/hg19 9p24.1(chr9:6536952-6623868)x1
GRCh37/hg19 9p24.1(chr9:6548344-6623868)x1
GRCh37/hg19 9p24.1(chr9:6548393-6620059)x1
GRCh37/hg19 9p24.1(chr9:6638114-6679992)x1
GRCh37/hg19 9p24.1(chr9:6638130-6697128)x1
NC_000009.12:g.6589195_6589197delCTG
NM_000170.2(GLDC):c.*7G>C rs2228098
NM_000170.2(GLDC):c.1009C>T (p.Arg337Ter) rs386833517
NM_000170.2(GLDC):c.1166C>T (p.Ala389Val) rs121964979
NM_000170.2(GLDC):c.1384C>G (p.Leu462Val) rs73400312
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000170.2(GLDC):c.1723G>T (p.Glu575Ter) rs1554646529
NM_000170.2(GLDC):c.1750C>T (p.Pro584Ser) rs1001664445
NM_000170.2(GLDC):c.1791G>T (p.Glu597Asp)
NM_000170.2(GLDC):c.183C>A (p.Asp61Glu) rs375497905
NM_000170.2(GLDC):c.1927-9A>G rs41281773
NM_000170.2(GLDC):c.1952A>G (p.His651Arg) rs386833536
NM_000170.2(GLDC):c.2053-5C>G rs140877566
NM_000170.2(GLDC):c.2113G>A (p.Val705Met) rs147275962
NM_000170.2(GLDC):c.2203-19G>A rs13440229
NM_000170.2(GLDC):c.2203G>T (p.Val735Leu) rs143119940
NM_000170.2(GLDC):c.2293C>T (p.Pro765Ser) rs386833551
NM_000170.2(GLDC):c.2316-1G>A rs386833554
NM_000170.2(GLDC):c.2352C>T (p.Pro784=) rs367781728
NM_000170.2(GLDC):c.2380G>A (p.Ala794Thr) rs141933811
NM_000170.2(GLDC):c.2423_2426dupGTTC (p.Ile810Phefs) rs755313904
NM_000170.2(GLDC):c.2474G>A (p.Gly825Asp) rs906049409
NM_000170.2(GLDC):c.2607dup (p.Phe870Leufs) rs1554642300
NM_000170.2(GLDC):c.2665+1G>C rs149070244
NM_000170.2(GLDC):c.2730G>A (p.Ser910=) rs144937031
NM_000170.2(GLDC):c.2791G>A (p.Ala931Thr) rs1057520185
NM_000170.2(GLDC):c.2919+3A>G rs73639325
NM_000170.2(GLDC):c.2919+5G>T rs768091555
NM_000170.2(GLDC):c.2964G>A (p.Arg988=) rs146045718
NM_000170.2(GLDC):c.437C>A (p.Thr146Lys) rs376578742
NM_000170.2(GLDC):c.498T>C (p.Pro166=) rs150193069
NM_000170.2(GLDC):c.501G>A (p.Glu167=) rs35374927
NM_000170.2(GLDC):c.578A>G (p.Asn193Ser)
NM_000170.2(GLDC):c.646A>G (p.Arg216Gly) rs140411475
NM_000170.2(GLDC):c.871T>C (p.Cys291Arg) rs141014950

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