List of variants in gene COL1A1 reported as pathogenic by Eurofins NTD LLC (GA)

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter)	rs72651642	0.00001
NM_000088.3(COL1A1):c.1301delG (p.Gly434Valfs)	rs1555573968
NM_000088.4(COL1A1):c.1452del (p.Gly485fs)	rs72648346
NM_000088.4(COL1A1):c.1678G>A (p.Gly560Ser)	rs67507747
NM_000088.4(COL1A1):c.1767+2T>G	rs794727394
NM_000088.4(COL1A1):c.1875+1G>C	rs72651622
NM_000088.4(COL1A1):c.2010del (p.Gly671fs)	rs72651634
NM_000088.4(COL1A1):c.2161C>T (p.Gln721Ter)	rs193922145
NM_000088.4(COL1A1):c.2991del (p.Gly998fs)	rs886042603
NM_000088.4(COL1A1):c.3061G>T (p.Glu1021Ter)	rs139593707
NM_000088.4(COL1A1):c.3065G>C (p.Gly1022Ala)	rs67771061
NM_000088.4(COL1A1):c.3162del (p.Gly1055fs)	rs72654794
NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser)	rs67394386
NM_000088.4(COL1A1):c.3567del (p.Gly1190fs)	rs886042286
NM_000088.4(COL1A1):c.3939C>A (p.Tyr1313Ter)	rs886042609
NM_000088.4(COL1A1):c.472-1G>C	rs72667020
NM_000088.4(COL1A1):c.643-2A>G	rs886042602
NM_000088.4(COL1A1):c.91C>T (p.Gln31Ter)	rs794726873

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