ClinVar Miner

List of variants in gene GDF5 reported as pathogenic for brachydactyly type A2

Included ClinVar conditions (6):

Acromesomelic dysplasia 2C, Hunter-Thompson type; Type A2 brachydactyly; Brachydactyly type C; Grebe syndrome; Multiple synostoses syndrome 2; Acromesomelic dysplasia 2B; Brachydactyly type A1C; Symphalangism, proximal, 1B; Osteoarthritis susceptibility 5
Type A2 brachydactyly
Type A2 brachydactyly; Acromesomelic dysplasia 3
Type A2 brachydactyly; Acromesomelic dysplasia 3; Acromesomelic dysplasia 2B; Brachydactyly type A1D
Type A2 brachydactyly; Acromesomelic dysplasia 3; Brachydactyly type A1D
Type A2 brachydactyly; Brachydactyly type A1D

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_000557.5(GDF5):c.1322T>C (p.Leu441Pro)	rs28936683	0.00001
NM_000557.5(GDF5):c.158del (p.Leu53fs)	rs886042462	0.00001
NM_000557.5(GDF5):c.1139G>A (p.Arg380Gln)	rs397514668

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