ClinVar Miner

List of variants in gene GDF5 studied for achondrogenesis

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP
NM_000557.5(GDF5):c.*166G>A rs569761315
NM_000557.5(GDF5):c.*193G>T rs114832948
NM_000557.5(GDF5):c.*259G>C
NM_000557.5(GDF5):c.*335A>C rs73611720
NM_000557.5(GDF5):c.*387T>C rs553655935
NM_000557.5(GDF5):c.*389C>T rs535023630
NM_000557.5(GDF5):c.*425T>C rs56366915
NM_000557.5(GDF5):c.*468G>A
NM_000557.5(GDF5):c.*520T>C rs188252641
NM_000557.5(GDF5):c.1000C>G (p.Arg334Gly) rs140895068
NM_000557.5(GDF5):c.1017= (p.Lys339=) rs224330
NM_000557.5(GDF5):c.1067A>G (p.Asn356Ser)
NM_000557.5(GDF5):c.1081C>T (p.Arg361Cys) rs758630897
NM_000557.5(GDF5):c.1104C>T (p.Thr368=) rs748907807
NM_000557.5(GDF5):c.1128G>T (p.Gln376His) rs138130158
NM_000557.5(GDF5):c.1144del (p.Ala382fs) rs1568731526
NM_000557.5(GDF5):c.1199G>A (p.Cys400Tyr) rs74315387
NM_000557.5(GDF5):c.1374C>G (p.Pro458=)
NM_000557.5(GDF5):c.168C>A (p.Asn56Lys) rs199666386
NM_000557.5(GDF5):c.182G>A (p.Gly61Glu)
NM_000557.5(GDF5):c.206C>G (p.Ala69Gly)
NM_000557.5(GDF5):c.226G>T (p.Ala76Ser)
NM_000557.5(GDF5):c.25T>C (p.Phe9Leu) rs373973964
NM_000557.5(GDF5):c.297dup (p.Arg100fs) rs761962752
NM_000557.5(GDF5):c.349G>T (p.Ala117Ser) rs151149144
NM_000557.5(GDF5):c.462C>A (p.Pro154=) rs150686636
NM_000557.5(GDF5):c.483G>A (p.Pro161=)
NM_000557.5(GDF5):c.497C>A (p.Pro166His) rs61754581
NM_000557.5(GDF5):c.506C>A (p.Pro169His)
NM_000557.5(GDF5):c.57G>T (p.Leu19=)
NM_000557.5(GDF5):c.631+6G>A
NM_000557.5(GDF5):c.652A>C (p.Arg218=) rs116467702
NM_000557.5(GDF5):c.826= (p.Ala276=) rs224331
NM_000557.5(GDF5):c.855C>T (p.Gly285=) rs149593773
NM_000557.5(GDF5):c.953G>C (p.Arg318Pro) rs201590447

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