List of variants in gene COL1A1 reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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.1042G>A (p.Ala348Thr)	rs139955975	0.00023
NM_000088.4(COL1A1):c.3100-6C>T	rs377123276	0.00019
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His)	rs144751329	0.00013
NM_000088.4(COL1A1):c.144T>A (p.His48Gln)	rs374065372	0.00011
NM_000088.4(COL1A1):c.4005+5G>A	rs778417218	0.00006
NM_000088.4(COL1A1):c.2773C>G (p.Pro925Ala)	rs772929903	0.00005
NM_000088.4(COL1A1):c.1207C>G (p.Pro403Ala)	rs762809403	0.00001
NM_000088.4(COL1A1):c.2819A>T (p.Asp940Val)	rs1339193404	0.00001
NM_000088.4(COL1A1):c.3094G>A (p.Ala1032Thr)	rs374095521	0.00001
NM_000088.4(COL1A1):c.1249C>T (p.Pro417Ser)	rs72648327
NM_000088.4(COL1A1):c.1351C>G (p.Pro451Ala)	rs1907454557
NM_000088.4(COL1A1):c.1767+4A>G	rs2144569023
NM_000088.4(COL1A1):c.203TGT[1] (p.Leu69del)	rs1598302040
NM_000088.4(COL1A1):c.2361C>A (p.Ser787Arg)
NM_000088.4(COL1A1):c.260C>T (p.Pro87Leu)	rs926503489
NM_000088.4(COL1A1):c.4039G>A (p.Asp1347Asn)
NM_000088.4(COL1A1):c.4058C>A (p.Thr1353Asn)	rs982770651
NM_000088.4(COL1A1):c.4192A>G (p.Ile1398Val)

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