ClinVar Miner

List of variants in gene GLDC reported as pathogenic by Invitae

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Gene type:
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Total variants: 33
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HGVS dbSNP
NC_000009.11:g.(?_6558539)_(6565449_?)del
NC_000009.11:g.(?_6565334)_(6565449_?)dup
NC_000009.11:g.(?_6594994)_(6620339_?)del
NC_000009.11:g.(?_6610172)_(6645519_?)del
NC_000009.11:g.(?_6644594)_(6645519_?)del
NC_000009.11:g.(?_6644604)_(6645509_?)del
NM_000170.2(GLDC):c.1009C>T (p.Arg337Ter) rs386833517
NM_000170.2(GLDC):c.1054del (p.Thr352fs) rs386833518
NM_000170.2(GLDC):c.1058+2T>A
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.1545G>C (p.Arg515Ser) rs121964976
NM_000170.2(GLDC):c.1580+2T>G rs1554646710
NM_000170.2(GLDC):c.1629del (p.Asn543fs)
NM_000170.2(GLDC):c.1652G>T (p.Ser551Ile) rs751822565
NM_000170.2(GLDC):c.1866_1867AT[3] (p.Ala624fs) rs772068893
NM_000170.2(GLDC):c.2186del (p.Ala729fs) rs386833543
NM_000170.2(GLDC):c.2278dup (p.His760fs) rs1563834980
NM_000170.2(GLDC):c.2311G>A (p.Gly771Arg) rs386833553
NM_000170.2(GLDC):c.2316-1G>A rs386833554
NM_000170.2(GLDC):c.2368C>T (p.Arg790Trp) rs386833556
NM_000170.2(GLDC):c.2489C>T (p.Thr830Met) rs386833560
NM_000170.2(GLDC):c.2527C>T (p.Arg843Ter) rs1554643360
NM_000170.2(GLDC):c.2584G>A (p.Glu862Lys) rs925908885
NM_000170.2(GLDC):c.2607C>A (p.Pro869=) rs386833565
NM_000170.2(GLDC):c.2614A>T (p.Lys872Ter) rs1430968530
NM_000170.2(GLDC):c.2665+1G>C rs149070244
NM_000170.2(GLDC):c.2714T>G (p.Val905Gly)
NM_000170.2(GLDC):c.2919+1G>C
NM_000170.2(GLDC):c.411_412insAATA (p.Tyr138fs) rs1563864784
NM_000170.2(GLDC):c.499G>T (p.Glu167Ter) rs191905539
NM_000170.2(GLDC):c.538C>T (p.Gln180Ter)
NM_000170.2(GLDC):c.806C>T (p.Thr269Met) rs386833587

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