ClinVar Miner

List of variants in gene GDF5 reported as pathogenic for not provided

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Total variants: 31
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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
NM_000557.5(GDF5):c.158del (p.Leu53fs) rs886042462 0.00001
NM_000557.5(GDF5):c.628C>T (p.Gln210Ter) rs146968459 0.00001
NM_000557.5(GDF5):c.891G>A (p.Trp297Ter) rs1464028021 0.00001
NC_000020.10:g.(?_34013855)_(34022482_?)del
NC_000020.10:g.(?_34021707)_(34025983_?)del
NM_000557.5(GDF5):c.1027del (p.Leu343fs)
NM_000557.5(GDF5):c.1139G>A (p.Arg380Gln) rs397514668
NM_000557.5(GDF5):c.1144del (p.Ala382fs) rs1568731526
NM_000557.5(GDF5):c.130_152del (p.Lys44fs) rs2062480958
NM_000557.5(GDF5):c.1313G>T (p.Arg438Leu) rs74315388
NM_000557.5(GDF5):c.1313_1314delinsTT (p.Arg438Leu) rs2146578516
NM_000557.5(GDF5):c.1375G>T (p.Glu459Ter)
NM_000557.5(GDF5):c.157del (p.Leu53fs) rs778834209
NM_000557.5(GDF5):c.157dup (p.Leu53fs) rs778834209
NM_000557.5(GDF5):c.205dup (p.Ala69fs) rs753691079
NM_000557.5(GDF5):c.244C>T (p.Gln82Ter)
NM_000557.5(GDF5):c.39C>G (p.Tyr13Ter)
NM_000557.5(GDF5):c.404dup (p.Ala137fs) rs2146582931
NM_000557.5(GDF5):c.448_461del (p.Arg150fs)
NM_000557.5(GDF5):c.466C>T (p.Arg156Ter) rs1194065564
NM_000557.5(GDF5):c.498del (p.Ile167fs) rs1368882599
NM_000557.5(GDF5):c.498dup (p.Ile167fs)
NM_000557.5(GDF5):c.666C>A (p.Tyr222Ter) rs2062463484
NM_000557.5(GDF5):c.733A>T (p.Lys245Ter)
NM_000557.5(GDF5):c.788_810dup (p.Gly271Ter) rs764122274
NM_000557.5(GDF5):c.87del (p.Asp30fs)
NM_000557.5(GDF5):c.901C>T (p.Arg301Ter) rs74315386
NM_000557.5(GDF5):c.917C>A (p.Ser306Ter)
NM_000557.5(GDF5):c.992del (p.Arg331fs) rs2146579283

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