ClinVar Miner

List of variants in gene combination GDF5, LOC109461476 reported as uncertain significance for multiple synostoses syndrome

Included ClinVar conditions (7):

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
Brachydactyly type B2; Symphalangism-brachydactyly syndrome; Tarsal-carpal coalition syndrome; Stapes ankylosis with broad thumbs and toes; Proximal symphalangism 1A
Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17; Multiple synostoses syndrome 4
Multiple synostoses syndrome 2
Multiple synostoses syndrome 3
Multiple synostoses syndrome 4
Symphalangism-brachydactyly syndrome

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)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000557.5(GDF5):c.-30C>A	rs375024998	0.00016
NM_000557.5(GDF5):c.-220C>T	rs886056643	0.00004
NM_000557.5(GDF5):c.-236G>A	rs1190526111	0.00004
NM_000557.5(GDF5):c.-97T>C	rs960967052

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