ClinVar Miner

List of variants reported as pathogenic for autosomal recessive multiple pterygium syndrome by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (4):

Autosomal recessive multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome; Lethal multiple pterygium syndrome
Contractures, pterygia, and variable skeletal fusions syndrome 1B
Freeman-Sheldon syndrome; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A; Arthrogryposis, distal, type 2B3; Contractures, pterygia, and variable skeletal fusions syndrome 1B

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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_005199.5(CHRNG):c.256C>T (p.Arg86Cys)	rs777219451	0.00001
NM_002470.4(MYH3):c.2501T>C (p.Phe834Ser)	rs2142400070
NM_005199.5(CHRNG):c.202C>T (p.Arg68Ter)	rs764266722

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