List of variants reported as uncertain significance for combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.3531+4T>C	rs145251615	0.00009
NM_000088.4(COL1A1):c.3779G>A (p.Arg1260His)	rs774001209	0.00006
NM_000088.4(COL1A1):c.4005+5G>A	rs778417218	0.00006
NM_000088.4(COL1A1):c.1200+5G>A	rs374322003	0.00005
NM_000088.4(COL1A1):c.125A>G (p.Gln42Arg)	rs367643097	0.00004
NM_000088.4(COL1A1):c.4196G>A (p.Arg1399His)	rs146035171	0.00004
NM_000088.4(COL1A1):c.3277C>T (p.Arg1093Cys)	rs72656307	0.00002
NM_000088.4(COL1A1):c.2204C>T (p.Ala735Val)	rs990375606	0.00001
NM_000088.4(COL1A1):c.2602G>A (p.Ala868Thr)	rs779846520	0.00001
NM_000088.4(COL1A1):c.1563A>T (p.Gly521=)
NM_000088.4(COL1A1):c.3331C>T (p.Arg1111Cys)	rs2144542395

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