List of variants in gene GDF5 reported as pathogenic by OMIM

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: 19

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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.1471G>A (p.Glu491Lys)	rs74315389	0.00001
GDF5, 22-BP DUP
GDF5, 23-BP INS, NT811
NM_000557.5(GDF5):c.1118T>G (p.Leu373Arg)	rs121909349
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.1195C>T (p.Arg399Cys)	rs397514519
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.1313G>T (p.Arg438Leu)	rs74315388
NM_000557.5(GDF5):c.1424G>A (p.Ser475Asn)	rs121909347
NM_000557.5(GDF5):c.1461T>G (p.Tyr487Ter)	rs121909348
NM_000557.5(GDF5):c.205dup (p.Ala69fs)	rs753691079
NM_000557.5(GDF5):c.297dup (p.Arg100fs)	rs761962752
NM_000557.5(GDF5):c.517A>G (p.Met173Val)	rs28936397
NM_000557.5(GDF5):c.901C>T (p.Arg301Ter)	rs74315386
NM_000557.5(GDF5):c.[1309_1311del;1315T>A1319A>T]

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