ClinVar Miner

List of variants reported as likely benign for spondylocarpotarsal synostosis syndrome by 3billion, Medical Genetics

Included ClinVar conditions (4):

Atelosteogenesis type III; Atelosteogenesis type I; Boomerang dysplasia; Spondylocarpotarsal synostosis syndrome; Larsen syndrome
Atelosteogenesis type III; Spondylocarpotarsal synostosis syndrome; Larsen syndrome
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A; Spondylocarpotarsal synostosis syndrome
Spondylocarpotarsal synostosis syndrome

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

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001457.4(FLNB):c.1679A>G (p.His560Arg)	rs749965480	0.00001
NM_001457.4(FLNB):c.4066G>A (p.Ala1356Thr)	rs764743602

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