ClinVar Miner

List of variants reported as uncertain significance for Grebe syndrome by Illumina Laboratory Services, Illumina

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000557.5(GDF5):c.-134C>G rs144924248 0.00155
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.-220C>T rs886056643 0.00010
NM_000557.5(GDF5):c.-236G>A rs1190526111 0.00004
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.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.-97T>C rs960967052
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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