List of variants in gene COL1A1 reported as uncertain significance 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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr)	rs113950465	0.00041
NM_000088.4(COL1A1):c.144T>A (p.His48Gln)	rs374065372	0.00011
NM_000088.4(COL1A1):c.3196C>T (p.Arg1066Cys)	rs72654799	0.00009
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.4005+5G>A	rs778417218	0.00006
NM_000088.4(COL1A1):c.1270G>A (p.Gly424Ser)	rs750427423	0.00004
NM_000088.4(COL1A1):c.3979G>A (p.Gly1327Ser)	rs147104425	0.00004
NM_000088.4(COL1A1):c.1718C>G (p.Ala573Gly)	rs1457362728	0.00003
NM_000088.4(COL1A1):c.3251G>A (p.Arg1084His)	rs746341018	0.00003
NM_000088.4(COL1A1):c.1492G>A (p.Ala498Thr)	rs1051473344	0.00001
NM_000088.4(COL1A1):c.1621A>G (p.Thr541Ala)	rs766204229	0.00001
NM_000088.4(COL1A1):c.1875+3G>T	rs138164489	0.00001
NM_000088.4(COL1A1):c.2519C>T (p.Pro840Leu)	rs748149807	0.00001
NM_000088.4(COL1A1):c.103+7C>T	rs2144600046
NM_000088.4(COL1A1):c.1459C>A (p.Arg487Ser)
NM_000088.4(COL1A1):c.1753C>T (p.Pro585Ser)	rs1170607509
NM_000088.4(COL1A1):c.1984-6C>A	rs373873548
NM_000088.4(COL1A1):c.2180A>C (p.Gln727Pro)	rs749032265
NM_000088.4(COL1A1):c.228C>A (p.Asp76Glu)
NM_000088.4(COL1A1):c.2522C>A (p.Pro841His)
NM_000088.4(COL1A1):c.3256C>T (p.Pro1086Ser)
NM_000088.4(COL1A1):c.3370-4T>C	rs2144540862
NM_000088.4(COL1A1):c.3963G>C (p.Lys1321Asn)	rs764729498
NM_000088.4(COL1A1):c.4081G>A (p.Glu1361Lys)	rs141011435
NM_000088.4(COL1A1):c.642+4A>G
NM_000088.4(COL1A1):c.992C>T (p.Ala331Val)	rs762653813
NM_000088.4(COL1A1):c.998C>T (p.Pro333Leu)	rs1907567727

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