ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, classic type by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

Included ClinVar conditions (12):

Ehlers-Danlos syndrome, classic type
Ehlers-Danlos syndrome, classic type, 1
Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal
Ehlers-Danlos syndrome, classic type, 2
Ehlers-Danlos syndrome, classic type, 2; Ehlers-Danlos syndrome, classic type
Ehlers-Danlos syndrome, classic type, 2; Ehlers-Danlos syndrome, classic type, 1
Ehlers-Danlos syndrome, classic type; Ehlers-Danlos syndrome, arthrochalasis type; Osteogenesis imperfecta; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
Ehlers-Danlos syndrome, classic type; Ehlers-Danlos syndrome, classic type, 1
Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I
Infantile cortical hyperostosis; Ehlers-Danlos syndrome, classic type; Ehlers-Danlos syndrome, arthrochalasis type; Osteogenesis imperfecta type I
Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1
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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.2114C>T (p.Pro705Leu)	rs375456811	0.00006
NM_002474.3(MYH11):c.2139G>C (p.Gln713His)	rs779897931	0.00002
NM_005120.3(MED12):c.5476C>T (p.Pro1826Ser)	rs867576281	0.00002
NM_000093.5(COL5A1):c.515T>A (p.Val172Asp)	rs1554781678
NM_001110556.2(FLNA):c.4528A>C (p.Asn1510His)	rs1557177310
NM_030777.4(SLC2A10):c.164T>C (p.Leu55Pro)	rs1555887820

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