ClinVar Miner

List of variants in gene GLDC reported as pathogenic

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Gene type:
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Total variants: 44
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HGVS dbSNP
GLDC, 2607C-A
GLDC, 30-KB DEL
NC_000009.12:g.(?_6558539)_(6565449_?)del
NC_000009.12:g.(?_6565334)_(6565449_?)dup
NC_000009.12:g.(?_6594994)_(6620339_?)del
NM_000170.2(GLDC):c.1009C>T (p.Arg337Ter) rs386833517
NM_000170.2(GLDC):c.1054delA (p.Thr352Glnfs) rs386833518
NM_000170.2(GLDC):c.1117C>T (p.Arg373Trp) rs150171524
NM_000170.2(GLDC):c.1145G>A (p.Cys382Tyr) rs759133707
NM_000170.2(GLDC):c.1166C>T (p.Ala389Val) rs121964979
NM_000170.2(GLDC):c.1270C>T (p.Arg424Ter) rs386833521
NM_000170.2(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.2(GLDC):c.1580+2T>G rs1554646710
NM_000170.2(GLDC):c.1691G>T (p.Ser564Ile) rs121964974
NM_000170.2(GLDC):c.1723G>T (p.Glu575Ter) rs1554646529
NM_000170.2(GLDC):c.1786C>T (p.Arg596Ter) rs386833531
NM_000170.2(GLDC):c.1888C>T (p.Arg630Ter) rs751025203
NM_000170.2(GLDC):c.1940C>T (p.Pro647Leu) rs201135624
NM_000170.2(GLDC):c.2177T>A (p.Leu726Gln) rs1114167353
NM_000170.2(GLDC):c.2186delC (p.Ala729Glufs) rs386833543
NM_000170.2(GLDC):c.2203-2A>G rs386833545
NM_000170.2(GLDC):c.2216G>A (p.Arg739His) rs121964980
NM_000170.2(GLDC):c.2267_2269delTCT (p.Phe756del) rs121964975
NM_000170.2(GLDC):c.2278dup (p.His760Profs)
NM_000170.2(GLDC):c.2281G>C (p.Gly761Arg) rs386833549
NM_000170.2(GLDC):c.2284G>A (p.Gly762Arg) rs386833550
NM_000170.2(GLDC):c.2311G>A (p.Gly771Arg) rs386833553
NM_000170.2(GLDC):c.2316-1G>A rs386833554
NM_000170.2(GLDC):c.2405C>T (p.Ala802Val) rs121964977
NM_000170.2(GLDC):c.2423_2426dupGTTC (p.Ile810Phefs) rs755313904
NM_000170.2(GLDC):c.24G>A (p.Trp8Ter) rs1163356968
NM_000170.2(GLDC):c.2527C>T (p.Arg843Ter) rs1554643360
NM_000170.2(GLDC):c.2544C>G (p.Tyr848Ter) rs1554643354
NM_000170.2(GLDC):c.2584G>A (p.Glu862Lys) rs925908885
NM_000170.2(GLDC):c.2614A>T (p.Lys872Ter) rs1430968530
NM_000170.2(GLDC):c.2665+1G>C rs149070244
NM_000170.2(GLDC):c.2838+2T>C rs1554641887
NM_000170.2(GLDC):c.2919+1G>A rs386833575
NM_000170.2(GLDC):c.2T>C (p.Met1Thr) rs121964978
NM_000170.2(GLDC):c.334+1G>T rs978795483
NM_000170.2(GLDC):c.411_412insAATA (p.Tyr138Asnfs)
NM_000170.2(GLDC):c.499G>T (p.Glu167Ter) rs191905539
NM_000170.2(GLDC):c.806C>T (p.Thr269Met) rs386833587
NM_000170.2:c.1337delT

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