List of variants in gene COL1A1 reported as benign for Caffey disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.2298T>C (p.Thr766=)	rs2734272	0.99956
NM_000088.4(COL1A1):c.4249-12G>A	rs2249492	0.52233
NM_000088.4(COL1A1):c.*744C>T	rs1061947	0.15959
NM_000088.4(COL1A1):c.1930-14T>C	rs2696247	0.13425
NM_000088.4(COL1A1):c.3459T>C (p.Asp1153=)	rs1800218	0.04610
NM_000088.4(COL1A1):c.177G>T (p.Arg59=)	rs1057297	0.04003
NM_000088.4(COL1A1):c.3223G>A (p.Ala1075Thr)	rs1800215	0.02714
NM_000088.4(COL1A1):c.298+7C>A	rs41317345	0.01333
NM_000088.4(COL1A1):c.1821C>T (p.Val607=)	rs41316667	0.00750
NM_000088.4(COL1A1):c.*1175T>G	rs75713851	0.00595
NM_000088.4(COL1A1):c.3243T>C (p.Val1081=)	rs1800217	0.00465
NM_000088.4(COL1A1):c.2613+14G>A	rs41316685	0.00101
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr)	rs148216434	0.00006
NM_000088.4(COL1A1):c.*88T>C	rs1061237
NM_000088.4(COL1A1):c.1300-8C>G	rs41317361
NM_000088.4(COL1A1):c.1300-8C>T	rs41317361

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