List of variants in gene GDF5 reported as uncertain significance for bone development disease

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.855C>T (p.Gly285=)	rs149593773	0.00025
NM_000557.5(GDF5):c.*259G>C	rs150833046	0.00016
NM_000557.5(GDF5):c.206C>G (p.Ala69Gly)	rs542574339	0.00002
NM_000557.5(GDF5):c.25T>C (p.Phe9Leu)	rs373973964	0.00002
NM_000557.5(GDF5):c.*166G>A	rs569761315	0.00001
NM_000557.5(GDF5):c.1067A>G (p.Asn356Ser)	rs367914931	0.00001
NM_000557.5(GDF5):c.1081C>T (p.Arg361Cys)	rs758630897	0.00001
NM_000557.5(GDF5):c.1104C>T (p.Thr368=)	rs748907807	0.00001
NM_000557.5(GDF5):c.1374C>G (p.Pro458=)	rs776415223	0.00001
NM_000557.5(GDF5):c.226G>T (p.Ala76Ser)	rs768978933	0.00001
NM_000557.5(GDF5):c.483G>A (p.Pro161=)	rs752789551	0.00001
NM_000557.5(GDF5):c.57G>T (p.Leu19=)	rs746980493	0.00001
NM_000557.5(GDF5):c.631+6G>A	rs768697784	0.00001
NM_000557.5(GDF5):c.1111G>T (p.Glu371Ter)
NM_000557.5(GDF5):c.1198_1200dup (p.Cys400dup)	rs760180391
NM_000557.5(GDF5):c.1272C>G (p.Tyr424Ter)	rs778394508
NM_000557.5(GDF5):c.168C>A (p.Asn56Lys)	rs199666386
NM_000557.5(GDF5):c.182G>A (p.Gly61Glu)	rs1601074882
NM_000557.5(GDF5):c.506C>A (p.Pro169His)	rs2062477372

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