List of variants in gene GDF5 reported as pathogenic for acromesomelic dysplasia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000557.5(GDF5):c.1322T>C (p.Leu441Pro)	rs28936683	0.00001
GDF5, 22-BP DUP
NM_000557.5(GDF5):c.1133G>A (p.Arg378Gln)	rs121909350
NM_000557.5(GDF5):c.1139G>A (p.Arg380Gln)	rs397514668
NM_000557.5(GDF5):c.1144del (p.Ala382fs)	rs1568731526
NM_000557.5(GDF5):c.1199G>A (p.Cys400Tyr)	rs74315387
NM_000557.5(GDF5):c.1306C>A (p.Pro436Thr)	rs121909351
NM_000557.5(GDF5):c.297dup (p.Arg100fs)	rs761962752
NM_000557.5(GDF5):c.404del (p.Pro135fs)	rs2146582931
NM_000557.5(GDF5):c.[1309_1311del;1315T>A1319A>T]

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