ClinVar Miner

List of variants studied for Freeman-Sheldon syndrome by Department of Pathology and Laboratory Medicine, Sinai Health System

Included ClinVar conditions (5):

Freeman-Sheldon syndrome
Freeman-Sheldon syndrome; Arthrogryposis, distal, type 2B3
Freeman-Sheldon syndrome; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A; Arthrogryposis, distal, type 2B3
Freeman-Sheldon syndrome; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A; Arthrogryposis, distal, type 2B3; Contractures, pterygia, and variable skeletal fusions syndrome 1B
Freeman-Sheldon syndrome; Distal arthrogryposis type 2B1; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A

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

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_002470.4(MYH3):c.875C>G (p.Ser292Cys)	rs139480342	0.00064
NM_002470.4(MYH3):c.3532G>A (p.Asp1178Asn)	rs199834077	0.00028
NM_002470.4(MYH3):c.4840C>T (p.Arg1614Trp)	rs141020227	0.00013
NM_002470.4(MYH3):c.3469G>A (p.Val1157Ile)	rs202057477	0.00005
NM_002470.4(MYH3):c.5332G>A (p.Ala1778Thr)	rs1272471978	0.00001

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