List of variants in gene GLDC reported as pathogenic for not provided

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 31

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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.499G>T (p.Glu167Ter)	rs191905539	0.00012
NM_000170.3(GLDC):c.2216G>A (p.Arg739His)	rs121964980	0.00006
NM_000170.3(GLDC):c.2281G>A (p.Gly761Arg)	rs386833549	0.00004
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter)	rs386833517	0.00003
NM_000170.3(GLDC):c.1166C>T (p.Ala389Val)	rs121964979	0.00003
NM_000170.3(GLDC):c.2316-1G>A	rs386833554	0.00003
NM_000170.3(GLDC):c.2665+1G>C	rs149070244	0.00003
NM_000170.3(GLDC):c.2714T>G (p.Val905Gly)	rs188269735	0.00003
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp)	rs150171524	0.00001
NM_000170.3(GLDC):c.128del (p.Asp43fs)	rs1251443902	0.00001
NM_000170.3(GLDC):c.1723G>T (p.Glu575Ter)	rs1554646529	0.00001
NM_000170.3(GLDC):c.806C>T (p.Thr269Met)	rs386833587	0.00001
GRCh37/hg19 9p24.1(chr9:6523010-6708344)x1
GRCh37/hg19 9p24.1(chr9:6542329-6611763)x1
GRCh37/hg19 9p24.1(chr9:6548392-6620059)x1
GRCh37/hg19 9p24.1(chr9:6556947-6679992)x1
GRCh37/hg19 9p24.1(chr9:6611112-6677371)x1
GRCh37/hg19 9p24.1(chr9:6631701-6679992)x1
NM_000170.3(GLDC):c.1054del (p.Thr352fs)	rs386833518
NM_000170.3(GLDC):c.1055C>G (p.Thr352Arg)	rs1554648060
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)	rs121964976
NM_000170.3(GLDC):c.2414G>A (p.Trp805Ter)	rs386833557
NM_000170.3(GLDC):c.2423_2426dup (p.Ile810fs)	rs755313904
NM_000170.3(GLDC):c.245T>C (p.Leu82Ser)	rs386833559
NM_000170.3(GLDC):c.2481_2484del (p.Gln828fs)	rs766762760
NM_000170.3(GLDC):c.2527C>T (p.Arg843Ter)	rs1554643360
NM_000170.3(GLDC):c.2798T>C (p.Ile933Thr)	rs758029533
NM_000170.3(GLDC):c.27del (p.Leu10fs)	rs1414541286
NM_000170.3(GLDC):c.334+1G>T	rs978795483
NM_000170.3(GLDC):c.862-1G>C	rs749542623

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