List of variants in gene COL1A1 reported as uncertain significance 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: 29

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.3761A>C (p.Asn1254Thr)	rs766709517	0.00148
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr)	rs113950465	0.00041
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.627C>T (p.Gly209=)	rs201136122	0.00013
NM_000088.4(COL1A1):c.2116G>A (p.Asp706Asn)	rs372215246	0.00006
NM_000088.4(COL1A1):c.2288G>A (p.Arg763His)	rs144820445	0.00006
NM_000088.4(COL1A1):c.2508C>T (p.Gly836=)	rs200620805	0.00006
NM_000088.4(COL1A1):c.299-9G>T	rs373041336	0.00004
NM_000088.4(COL1A1):c.3944G>T (p.Ser1315Ile)	rs1391247648	0.00004
NM_000088.4(COL1A1):c.3258C>T (p.Pro1086=)	rs200319927	0.00003
NM_000088.4(COL1A1):c.1621A>G (p.Thr541Ala)	rs766204229	0.00001
NM_000088.4(COL1A1):c.2614-8C>T	rs886042649	0.00001
NM_000088.4(COL1A1):c.2715C>T (p.Gly905=)	rs779337831	0.00001
NM_000088.4(COL1A1):c.277C>A (p.Pro93Thr)	rs886042456	0.00001
NM_000088.4(COL1A1):c.3025C>T (p.Pro1009Ser)	rs794727663	0.00001
NM_000088.4(COL1A1):c.3060C>T (p.Ala1020=)	rs751239116	0.00001
NM_000088.4(COL1A1):c.3733A>T (p.Ile1245Phe)	rs199514372	0.00001
NM_000088.4(COL1A1):c.3906C>T (p.Pro1302=)	rs188887858	0.00001
NM_000088.4(COL1A1):c.1767+3_1767+6del	rs886042301
NM_000088.4(COL1A1):c.2143C>T (p.Pro715Ser)	rs886043618
NM_000088.4(COL1A1):c.2283C>T (p.Gly761=)	rs759665341
NM_000088.4(COL1A1):c.2535A>C (p.Gly845=)	rs886043649
NM_000088.4(COL1A1):c.2838T>G (p.Pro946=)	rs1555572418
NM_000088.4(COL1A1):c.3207+8G>T	rs866785621
NM_000088.4(COL1A1):c.3369+9G>T	rs1009435359
NM_000088.4(COL1A1):c.3923C>A (p.Ala1308Asp)	rs1370247898
NM_000088.4(COL1A1):c.472-4C>G	rs753888456
NM_000088.4(COL1A1):c.516C>T (p.Thr172=)	rs377195143

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