ClinVar Miner

List of variants in gene LOC130006029, LTBP3 studied for bone disorder

Included ClinVar conditions (1436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001130144.3(LTBP3):c.2353+14C>T rs368828977 0.00068
NM_001130144.3(LTBP3):c.2316G>T (p.Gln772His) rs201219596 0.00008
NM_001130144.3(LTBP3):c.2255G>A (p.Ser752Asn) rs369066686 0.00006
NM_001130144.3(LTBP3):c.2238C>T (p.Asn746=) rs897072047 0.00005
NM_001130144.3(LTBP3):c.2231-13C>G rs867967679 0.00003
NM_001130144.3(LTBP3):c.2338G>A (p.Gly780Ser) rs573478612 0.00003
NM_001130144.3(LTBP3):c.2231-6C>T rs772392360 0.00001
NM_001130144.3(LTBP3):c.2231-8C>T rs777848984 0.00001
NM_001130144.3(LTBP3):c.2232C>A (p.Asp744Glu) rs1301932570 0.00001
NM_001130144.3(LTBP3):c.2272T>G (p.Trp758Gly) rs763648441 0.00001
NM_001130144.3(LTBP3):c.2280G>C (p.Glu760Asp) rs775536766 0.00001
NM_001130144.3(LTBP3):c.2335G>A (p.Asp779Asn) rs750909757 0.00001
NM_001130144.3(LTBP3):c.2342G>A (p.Arg781His) rs1234185043 0.00001
NM_001130144.3(LTBP3):c.2353+17C>T rs767553195 0.00001
NM_001130144.3(LTBP3):c.2231-10T>C
NM_001130144.3(LTBP3):c.2231-1G>C rs1856377929
NM_001130144.3(LTBP3):c.2231-3C>T
NM_001130144.3(LTBP3):c.2231-5C>A
NM_001130144.3(LTBP3):c.2231-5C>G rs778900036
NM_001130144.3(LTBP3):c.2232C>G (p.Asp744Glu) rs1301932570
NM_001130144.3(LTBP3):c.2235G>A (p.Val745=)
NM_001130144.3(LTBP3):c.2240A>G (p.Glu747Gly)
NM_001130144.3(LTBP3):c.2245G>C (p.Ala749Pro)
NM_001130144.3(LTBP3):c.2246C>G (p.Ala749Gly) rs756402873
NM_001130144.3(LTBP3):c.2248G>T (p.Glu750Ter) rs1554973844
NM_001130144.3(LTBP3):c.2252G>A (p.Gly751Asp) rs2496147872
NM_001130144.3(LTBP3):c.2256C>A (p.Ser752Arg) rs761473722
NM_001130144.3(LTBP3):c.2257C>A (p.Pro753Thr)
NM_001130144.3(LTBP3):c.2259C>T (p.Pro753=) rs1466180648
NM_001130144.3(LTBP3):c.2266C>T (p.Pro756Ser) rs2496147810
NM_001130144.3(LTBP3):c.2273G>A (p.Trp758Ter)
NM_001130144.3(LTBP3):c.2281A>G (p.Asn761Asp)
NM_001130144.3(LTBP3):c.2287C>A (p.Pro763Thr)
NM_001130144.3(LTBP3):c.2287C>T (p.Pro763Ser) rs377091192
NM_001130144.3(LTBP3):c.2288C>T (p.Pro763Leu)
NM_001130144.3(LTBP3):c.2306C>T (p.Thr769Ile) rs916383146
NM_001130144.3(LTBP3):c.2307C>T (p.Thr769=) rs2496147634
NM_001130144.3(LTBP3):c.2322C>G (p.Tyr774Ter) rs121909145
NM_001130144.3(LTBP3):c.2322C>T (p.Tyr774=) rs121909145
NM_001130144.3(LTBP3):c.2324CGCCCG[3] (p.Pro778_Asp779insAlaPro) rs960880284
NM_001130144.3(LTBP3):c.2325G>T (p.Ala775=) rs1269193902
NM_001130144.3(LTBP3):c.2326C>T (p.Pro776Ser) rs2496147536
NM_001130144.3(LTBP3):c.2328del (p.Ala777fs) rs2496147524
NM_001130144.3(LTBP3):c.2330C>T (p.Ala777Val) rs2496147505
NM_001130144.3(LTBP3):c.2331G>A (p.Ala777=) rs2496147496
NM_001130144.3(LTBP3):c.2332C>A (p.Pro778Thr) rs2135138292
NM_001130144.3(LTBP3):c.2337C>T (p.Asp779=) rs781555170
NM_001130144.3(LTBP3):c.2338G>C (p.Gly780Arg)
NM_001130144.3(LTBP3):c.2339G>C (p.Gly780Ala) rs1344419395
NM_001130144.3(LTBP3):c.2339G>T (p.Gly780Val) rs1344419395
NM_001130144.3(LTBP3):c.2345G>A (p.Ser782Asn) rs1387730966
NM_001130144.3(LTBP3):c.2353+13del rs1856370966
NM_001130144.3(LTBP3):c.2353+15C>T rs1379347824
NM_001130144.3(LTBP3):c.2353+17C>G rs767553195
NM_001130144.3(LTBP3):c.2353+18del

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.