ClinVar Miner

List of variants reported as pathogenic for autosomal recessive multiple pterygium syndrome by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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.753_754del (p.Val253fs)	rs767503038	0.00026
NM_005199.5(CHRNG):c.1143G>A (p.Trp381Ter)	rs1055176338
NM_005199.5(CHRNG):c.241C>T (p.Gln81Ter)	rs1574643342

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