ClinVar Miner

List of variants studied for Freeman-Sheldon syndrome by Juno Genomics, Hangzhou Juno Genomics, Inc

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_002470.4(MYH3):c.1748A>C (p.Tyr583Ser)	rs1597488038
NM_002470.4(MYH3):c.2015G>A (p.Arg672His)	rs121913617
NM_002470.4(MYH3):c.204+1G>A
NM_002470.4(MYH3):c.3872A>C (p.Gln1291Pro)

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