List of variants in gene GLDC reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 66

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HGVS	dbSNP	gnomAD frequency
NM_000170.3(GLDC):c.2380G>A (p.Ala794Thr)	rs141933811	0.00728
NM_000170.3(GLDC):c.52G>T (p.Gly18Cys)	rs535143891	0.00670
NM_000170.3(GLDC):c.2203G>T (p.Val735Leu)	rs143119940	0.00650
NM_000170.3(GLDC):c.2570-22C>G	rs200609000	0.00632
NM_000170.3(GLDC):c.871T>G (p.Cys291Gly)	rs141014950	0.00580
NM_000170.3(GLDC):c.1707+8G>A	rs144666843	0.00464
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr)	rs151268759	0.00419
NM_000170.3(GLDC):c.2113G>A (p.Val705Met)	rs147275962	0.00405
NM_000170.3(GLDC):c.678C>T (p.His226=)	rs12006003	0.00338
NM_000170.3(GLDC):c.2053-5C>G	rs140877566	0.00278
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys)	rs144090917	0.00234
NM_000170.3(GLDC):c.2487C>T (p.Ala829=)	rs141806715	0.00213
NM_000170.3(GLDC):c.1156-7C>G	rs150095531	0.00208
NM_000170.3(GLDC):c.2683A>G (p.Met895Val)	rs141152043	0.00200
NM_000170.3(GLDC):c.2955G>A (p.Thr985=)	rs142004524	0.00131
NM_000170.3(GLDC):c.2988G>C (p.Gln996His)	rs138640017	0.00112
NM_000170.3(GLDC):c.498T>C (p.Pro166=)	rs150193069	0.00110
NM_000170.3(GLDC):c.222C>T (p.Asp74=)	rs148373517	0.00096
NM_000170.3(GLDC):c.2964G>A (p.Arg988=)	rs146045718	0.00095
NM_000170.3(GLDC):c.2730G>A (p.Ser910=)	rs144937031	0.00061
NM_000170.3(GLDC):c.936C>T (p.Ile312=)	rs79057118	0.00058
NM_000170.3(GLDC):c.1000T>C (p.Phe334Leu)	rs149133229	0.00031
NM_000170.3(GLDC):c.2874C>T (p.Ser958=)	rs146339375	0.00028
NM_000170.3(GLDC):c.2352C>T (p.Pro784=)	rs367781728	0.00017
NM_000170.3(GLDC):c.1752T>C (p.Pro584=)	rs150647379	0.00012
NM_000170.3(GLDC):c.255+8C>T	rs202086134	0.00011
NM_000170.3(GLDC):c.2446G>A (p.Ala816Thr)	rs775834004	0.00007
NM_000170.3(GLDC):c.258C>T (p.Ser86=)	rs562000292	0.00006
NM_000170.3(GLDC):c.2919C>T (p.Leu973=)	rs113736090	0.00006
NM_000170.3(GLDC):c.270G>C (p.Leu90Phe)	rs747736821	0.00005
NM_000170.3(GLDC):c.2714T>G (p.Val905Gly)	rs188269735	0.00003
NM_000170.3(GLDC):c.2703G>C (p.Gly901=)	rs369767254	0.00002
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp)	rs150171524	0.00001
NM_000170.3(GLDC):c.1155+3A>G	rs770529091	0.00001
NM_000170.3(GLDC):c.149C>T (p.Ser50Leu)	rs778725420	0.00001
NM_000170.3(GLDC):c.1567C>G (p.Gln523Glu)	rs199711131	0.00001
NM_000170.3(GLDC):c.1664T>G (p.Leu555Arg)	rs765384489	0.00001
NM_000170.3(GLDC):c.1871C>T (p.Ala624Val)	rs779980470	0.00001
NM_000170.3(GLDC):c.2793T>A (p.Ala931=)	rs367759326	0.00001
NM_000170.3(GLDC):c.2869T>C (p.Ser957Pro)	rs386833571	0.00001
NM_000170.3(GLDC):c.3048G>C (p.Lys1016Asn)	rs1034808665	0.00001
NM_000170.3(GLDC):c.646A>G (p.Arg216Gly)	rs140411475	0.00001
NM_000170.3(GLDC):c.831G>A (p.Thr277=)	rs369824891	0.00001
NM_000170.3(GLDC):c.1311C>T (p.Thr437=)	rs1317859936
NM_000170.3(GLDC):c.1579_1581del (p.Ser527del)	rs1563849699
NM_000170.3(GLDC):c.1704C>T (p.Leu568=)	rs919319637
NM_000170.3(GLDC):c.1850+8C>A	rs1326427792
NM_000170.3(GLDC):c.1927-4G>A	rs576723612
NM_000170.3(GLDC):c.1931G>A (p.Cys644Tyr)	rs386833535
NM_000170.3(GLDC):c.2163A>C (p.Gly721=)
NM_000170.3(GLDC):c.2316-6del	rs3215923
NM_000170.3(GLDC):c.2397C>A (p.Thr799=)	rs778396953
NM_000170.3(GLDC):c.2526G>C (p.Lys842Asn)	rs548033815
NM_000170.3(GLDC):c.2600C>A (p.Thr867Lys)	rs749852046
NM_000170.3(GLDC):c.268T>A (p.Leu90Met)	rs771631849
NM_000170.3(GLDC):c.2798T>C (p.Ile933Thr)	rs758029533
NM_000170.3(GLDC):c.2951del (p.Pro984fs)
NM_000170.3(GLDC):c.482A>G (p.Tyr161Cys)	rs386833580
NM_000170.3(GLDC):c.540G>C (p.Gln180His)
NM_000170.3(GLDC):c.635+1G>C	rs1368757896
NM_000170.3(GLDC):c.66G>C (p.Leu22=)	rs1337924090
NM_000170.3(GLDC):c.714-8C>G	rs746399537
NM_000170.3(GLDC):c.726C>T (p.Val242=)	rs377750481
NM_000170.3(GLDC):c.814A>C (p.Lys272Gln)
NM_000170.3(GLDC):c.862-1G>C	rs749542623
NM_000170.3(GLDC):c.989A>G (p.His330Arg)	rs1267445922

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