List of variants in gene COL1A1 studied for Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.3196C>T (p.Arg1066Cys)	rs72654799	0.00009
NM_000088.4(COL1A1):c.3277C>T (p.Arg1093Cys)	rs72656307	0.00002
NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter)	rs72648326
NM_000088.4(COL1A1):c.3141TCCTGGTGC[1] (p.1047APG[2])	rs74315111
NM_000088.4(COL1A1):c.3207+1G>A	rs1555572239
NM_000088.4(COL1A1):c.344G>A (p.Gly115Glu)
NM_000088.4(COL1A1):c.3814+1G>A
NM_000088.4(COL1A1):c.4006-1G>A
NM_000088.4(COL1A1):c.562G>T (p.Gly188Cys)
NM_000088.4(COL1A1):c.563G>A (p.Gly188Asp)	rs1114167408
NM_000088.4(COL1A1):c.572G>A (p.Gly191Asp)	rs67828806

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