List of variants in gene COL1A1 studied for Osteogenesis Imperfecta, Dominant

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: 22

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.1384_1387del	rs886053139	0.00010
NM_000088.4(COL1A1):c.*714C>T	rs567392981	0.00006
NM_000088.4(COL1A1):c.*251dup	rs886053154	0.00002
NM_000088.4(COL1A1):c.1007_1008del	rs886053144
NM_000088.4(COL1A1):c.*1026TG[1]	rs878983048
NM_000088.4(COL1A1):c.1026_1028del	rs751268781
NM_000088.4(COL1A1):c.*1027del	rs878912123
NM_000088.4(COL1A1):c.1029_1031del	rs886053143
NM_000088.4(COL1A1):c.1030_1031del	rs886053142
NM_000088.4(COL1A1):c.*1045del	rs886053141
NM_000088.4(COL1A1):c.*215del	rs886053157
NM_000088.4(COL1A1):c.242_244dup	rs56302025
NM_000088.4(COL1A1):c.243_244dup	rs56302025
NM_000088.4(COL1A1):c.245_246dup	rs886053155
NM_000088.4(COL1A1):c.*245del	rs886053156
NM_000088.4(COL1A1):c.*255dup	rs886053153
NM_000088.4(COL1A1):c.257_258dup	rs886053152
NM_000088.4(COL1A1):c.*258dup	rs886053152
NM_000088.4(COL1A1):c.259_260insAT	rs886053151
NM_000088.4(COL1A1):c.681_682insAGCA	rs3840870
NM_000088.4(COL1A1):c.998_999del	rs886053145
NM_000088.4(COL1A1):c.-78_-77delinsAA	rs886053163

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