ClinVar Miner

List of variants in gene COL1A1 reported as pathogenic for Ehlers-Danlos syndrome, arthrochalasia type

Included ClinVar conditions (13):

Ehlers-Danlos syndrome type 7A
Ehlers-Danlos syndrome, arthrochalasis type
Ehlers-Danlos syndrome, arthrochalasis type; Osteogenesis imperfecta
Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-Danlos syndrome, arthrochalasis type; Osteogenesis imperfecta
Ehlers-Danlos syndrome, classic type; Ehlers-Danlos syndrome, arthrochalasis type; Osteogenesis imperfecta; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasis type; Osteogenesis imperfecta
Infantile cortical hyperostosis; Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-Danlos syndrome, arthrochalasis type; Osteogenesis imperfecta
Infantile cortical hyperostosis; Ehlers-Danlos syndrome, classic type; Ehlers-Danlos syndrome, arthrochalasis type; Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, recessive perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasis type; Osteogenesis imperfecta type I; Osteoporosis; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
Osteogenesis imperfecta with normal sclerae, dominant form; Postmenopausal osteoporosis; Osteogenesis imperfecta, recessive perinatal lethal; Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-Danlos syndrome, arthrochalasis type
Osteogenesis imperfecta with normal sclerae, dominant form; Postmenopausal osteoporosis; Osteogenesis imperfecta, recessive perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasis type; Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form; Postmenopausal osteoporosis; Osteogenesis imperfecta, recessive perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasis type; Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1
Osteogenesis imperfecta, recessive perinatal lethal; Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-Danlos syndrome, arthrochalasis type

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter)	rs72651642	0.00001
NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys)	rs72653170	0.00001
NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter)	rs72648326
NM_000088.4(COL1A1):c.1299+1G>A	rs66490707
NM_000088.4(COL1A1):c.1667del (p.Pro556fs)	rs1351742344
NM_000088.4(COL1A1):c.1821+1G>A	rs66555264
NM_000088.4(COL1A1):c.2343+1G>A	rs1114167378
NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser)	rs67879854
NM_000088.4(COL1A1):c.288del (p.Asp97fs)	rs2144593759
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter)	rs72653173
NM_000088.4(COL1A1):c.3495del (p.Gly1166fs)	rs1555571916
NM_000088.4(COL1A1):c.472-1G>A	rs72667020
NM_000088.4(COL1A1):c.472-1G>T	rs72667020
NM_000088.4(COL1A1):c.472-2A>T	rs72667019
NM_000088.4(COL1A1):c.543G>A (p.Met181Ile)	rs72667022
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys)	rs72645347
NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg)	rs72645357

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