ClinVar Miner

List of variants in gene CHRND reported as uncertain significance for autosomal recessive multiple pterygium syndrome

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000751.3(CHRND):c.*149A>G	rs114315112	0.01306
NM_000751.3(CHRND):c.144_145insAG	rs530814490
NM_000751.3(CHRND):c.623_627dup	rs886055785

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