ClinVar Miner

List of variants in gene GDF5 studied for bone development disease

Included ClinVar conditions (618):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000557.5(GDF5):c.826= (p.Ala276=) rs224331 0.38490
NM_000557.5(GDF5):c.1017= (p.Lys339=) rs224330 0.10244
NM_000557.5(GDF5):c.*335A>C rs73611720 0.09512
NM_000557.5(GDF5):c.*425T>C rs56366915 0.04970
NM_000557.5(GDF5):c.497C>A (p.Pro166His) rs61754581 0.03081
NM_000557.5(GDF5):c.*193G>T rs114832948 0.02139
NM_000557.5(GDF5):c.*468G>A rs79051206 0.00818
NM_000557.5(GDF5):c.349G>T (p.Ala117Ser) rs151149144 0.00539
NM_000557.5(GDF5):c.652A>C (p.Arg218=) rs116467702 0.00240
NM_000557.5(GDF5):c.*520T>C rs188252641 0.00238
NM_000557.5(GDF5):c.462C>A (p.Pro154=) rs150686636 0.00236
NM_000557.5(GDF5):c.1128G>T (p.Gln376His) rs138130158 0.00057
NM_000557.5(GDF5):c.953G>C (p.Arg318Pro) rs201590447 0.00026
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.*387T>C rs553655935 0.00004
NM_000557.5(GDF5):c.*389C>T rs535023630 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.1081C>T (p.Arg361Cys) rs758630897 0.00001
NM_000557.5(GDF5):c.1104C>T (p.Thr368=) rs748907807 0.00001
NM_000557.5(GDF5):c.1322T>C (p.Leu441Pro) rs28936683 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
GDF5, 22-BP DUP
NM_000557.5(GDF5):c.1000C>G (p.Arg334Gly) rs140895068
NM_000557.5(GDF5):c.1111G>T (p.Glu371Ter)
NM_000557.5(GDF5):c.1133G>A (p.Arg378Gln) rs121909350
NM_000557.5(GDF5):c.1144del (p.Ala382fs) rs1568731526
NM_000557.5(GDF5):c.1198_1200dup (p.Cys400dup) rs760180391
NM_000557.5(GDF5):c.1199G>A (p.Cys400Tyr) rs74315387
NM_000557.5(GDF5):c.1272C>G (p.Tyr424Ter) rs778394508
NM_000557.5(GDF5):c.1299C>A (p.Cys433Ter)
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.168C>A (p.Asn56Lys) rs199666386
NM_000557.5(GDF5):c.182G>A (p.Gly61Glu) rs1601074882
NM_000557.5(GDF5):c.297dup (p.Arg100fs) rs761962752
NM_000557.5(GDF5):c.404del (p.Pro135fs) rs2146582931
NM_000557.5(GDF5):c.506C>A (p.Pro169His) rs2062477372
NM_000557.5(GDF5):c.901C>T (p.Arg301Ter) rs74315386
NM_000557.5(GDF5):c.[1309_1311del;1315T>A1319A>T]

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.