List of variants in gene COL1A2 studied for Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000089.4(COL1A2):c.2456G>A (p.Arg819His)	rs773985005	0.00008
NM_000089.4(COL1A2):c.949G>A (p.Val317Ile)	rs142803502	0.00006
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser)	rs72656387	0.00001
NC_000007.13:g.94035075_94047591dup
NM_000089.4(COL1A2):c.1018G>A (p.Gly340Ser)	rs67180473
NM_000089.4(COL1A2):c.1145G>T (p.Gly382Val)
NM_000089.4(COL1A2):c.1273G>A (p.Ala425Thr)
NM_000089.4(COL1A2):c.1576G>A (p.Gly526Arg)	rs72658129
NM_000089.4(COL1A2):c.2245G>C (p.Glu749Gln)
NM_000089.4(COL1A2):c.299G>A (p.Gly100Asp)
NM_000089.4(COL1A2):c.3105+2T>C	rs72659324
NM_000089.4(COL1A2):c.324+4del	rs1791756559
NM_000089.4(COL1A2):c.326G>A (p.Gly109Asp)	rs1114167416
NM_000089.4(COL1A2):c.3583T>C (p.Cys1195Arg)	rs2115962248
NM_000089.4(COL1A2):c.3971G>A (p.Trp1324Ter)	rs2115969692
NM_000089.4(COL1A2):c.432+5G>A	rs72656364
NM_000089.4(COL1A2):c.693+5G>A

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