ClinVar Miner

List of variants reported as pathogenic for spondylocarpotarsal synostosis syndrome by Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital

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)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001457.4(FLNB):c.2452C>T (p.Arg818Ter)	rs80356519	0.00001
NM_001457.4(FLNB):c.4819C>T (p.Arg1607Ter)	rs80356520	0.00001
NM_001457.4(FLNB):c.1945C>T (p.Arg649Ter)	rs80356517

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