ClinVar Miner

List of variants reported as uncertain significance for bent bone dysplasia by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 208
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HGVS dbSNP gnomAD frequency
NM_001127671.2(LIFR):c.364A>G (p.Thr122Ala) rs145163157 0.00131
NM_001127671.2(LIFR):c.2410A>G (p.Lys804Glu) rs148664975 0.00056
NM_001127671.2(LIFR):c.2948C>G (p.Pro983Arg) rs146856673 0.00044
NM_001127671.2(LIFR):c.1267A>G (p.Ile423Val) rs144606459 0.00042
NM_001127671.2(LIFR):c.263G>A (p.Arg88His) rs61751711 0.00042
NM_001127671.2(LIFR):c.626T>C (p.Met209Thr) rs182922893 0.00019
NM_021625.5(TRPV4):c.1976C>T (p.Ser659Leu) rs779715512 0.00015
NM_000141.5(FGFR2):c.2426T>C (p.Leu809Pro) rs368003279 0.00011
NM_000141.5(FGFR2):c.289G>A (p.Ala97Thr) rs372430349 0.00011
NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln) rs199757302 0.00011
NM_001127671.2(LIFR):c.2349A>G (p.Ile783Met) rs371539913 0.00011
NM_001127671.2(LIFR):c.328A>G (p.Ile110Val) rs74988893 0.00011
NM_001127671.2(LIFR):c.410A>G (p.Asp137Gly) rs773284026 0.00011
NM_001127671.2(LIFR):c.3166T>C (p.Ser1056Pro) rs377647437 0.00009
NM_001127671.2(LIFR):c.853A>G (p.Thr285Ala) rs375264714 0.00008
NM_001127671.2(LIFR):c.4A>G (p.Met2Val) rs552697580 0.00007
NM_001127671.2(LIFR):c.1103G>T (p.Ser368Ile) rs867777562 0.00006
NM_001127671.2(LIFR):c.2284T>C (p.Tyr762His) rs200270315 0.00006
NM_001127671.2(LIFR):c.2737A>G (p.Thr913Ala) rs764878525 0.00006
NM_000141.5(FGFR2):c.16C>T (p.Arg6Cys) rs141724446 0.00005
NM_001127671.2(LIFR):c.1705C>G (p.Leu569Val) rs544925449 0.00005
NM_001127671.2(LIFR):c.904C>T (p.Arg302Cys) rs61751714 0.00005
NM_021625.5(TRPV4):c.202C>T (p.Arg68Cys) rs199624080 0.00005
NM_000141.5(FGFR2):c.143A>C (p.Glu48Ala) rs200700308 0.00004
NM_001127671.2(LIFR):c.1790G>A (p.Arg597Gln) rs202048083 0.00004
NM_001127671.2(LIFR):c.287C>A (p.Thr96Asn) rs776409022 0.00004
NM_000141.5(FGFR2):c.1085C>T (p.Ala362Val) rs757846343 0.00003
NM_000141.5(FGFR2):c.1117C>T (p.Pro373Ser) rs1458741036 0.00003
NM_000141.5(FGFR2):c.362T>C (p.Met121Thr) rs748322657 0.00003
NM_000141.5(FGFR2):c.772C>T (p.Leu258Phe) rs747171741 0.00003
NM_001127671.2(LIFR):c.1526T>C (p.Ile509Thr) rs535400576 0.00003
NM_001127671.2(LIFR):c.2670+6C>G rs898718526 0.00003
NM_001127671.2(LIFR):c.28C>T (p.Arg10Ter) rs3729732 0.00003
NM_001127671.2(LIFR):c.952A>G (p.Thr318Ala) rs112569049 0.00003
NM_000141.5(FGFR2):c.1238C>T (p.Pro413Leu) rs372348666 0.00002
NM_000141.5(FGFR2):c.1328C>T (p.Pro443Leu) rs757125418 0.00002
NM_000141.5(FGFR2):c.1561+6C>T rs781352732 0.00002
NM_000141.5(FGFR2):c.160C>T (p.Pro54Ser) rs151126801 0.00002
NM_000141.5(FGFR2):c.2056G>A (p.Val686Ile) rs760895785 0.00002
NM_000141.5(FGFR2):c.2251A>C (p.Lys751Gln) rs757501816 0.00002
NM_000141.5(FGFR2):c.544G>T (p.Gly182Trp) rs200766273 0.00002
NM_001127671.2(LIFR):c.2759T>C (p.Ile920Thr) rs1372457471 0.00002
NM_001127671.2(LIFR):c.2887G>A (p.Ala963Thr) rs770022153 0.00002
NM_001127671.2(LIFR):c.3095C>A (p.Ala1032Asp) rs772164575 0.00002
NM_001127671.2(LIFR):c.3245G>A (p.Gly1082Glu) rs775530423 0.00002
NM_021625.5(TRPV4):c.1376T>G (p.Leu459Arg) rs201132615 0.00002
NM_021625.5(TRPV4):c.190C>T (p.Arg64Ter) rs372452565 0.00002
NM_000141.5(FGFR2):c.*1369C>T rs886046759 0.00001
NM_000141.5(FGFR2):c.1029G>A (p.Leu343=) rs559688816 0.00001
NM_000141.5(FGFR2):c.1213A>G (p.Lys405Glu) rs772986332 0.00001
NM_000141.5(FGFR2):c.1240G>A (p.Ala414Thr) rs769880096 0.00001
NM_000141.5(FGFR2):c.1313T>C (p.Met438Thr) rs1346945144 0.00001
NM_000141.5(FGFR2):c.1342A>G (p.Thr448Ala) rs1187984599 0.00001
NM_000141.5(FGFR2):c.138A>C (p.Gln46His) rs748117555 0.00001
NM_000141.5(FGFR2):c.1486G>A (p.Val496Ile) rs751731391 0.00001
NM_000141.5(FGFR2):c.1637A>C (p.Asn546Thr) rs765658636 0.00001
NM_000141.5(FGFR2):c.1985A>G (p.Asn662Ser) rs962103382 0.00001
NM_000141.5(FGFR2):c.2077A>G (p.Met693Val) rs774682374 0.00001
NM_000141.5(FGFR2):c.293C>T (p.Thr98Met) rs1041970177 0.00001
NM_000141.5(FGFR2):c.419C>T (p.Ala140Val) rs752501698 0.00001
NM_000141.5(FGFR2):c.532C>T (p.Arg178Cys) rs974173968 0.00001
NM_000141.5(FGFR2):c.67C>A (p.Pro23Thr) rs1309596973 0.00001
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu) rs779326224 0.00001
NM_000141.5(FGFR2):c.904G>A (p.Gly302Arg) rs1159063118 0.00001
NM_000141.5(FGFR2):c.910G>A (p.Asp304Asn) rs370877537 0.00001
NM_000141.5(FGFR2):c.963C>A (p.Asp321Glu) rs1318903454 0.00001
NM_001127671.2(LIFR):c.1319A>G (p.Lys440Arg) rs1250493020 0.00001
NM_001127671.2(LIFR):c.1493A>G (p.Lys498Arg) rs771697399 0.00001
NM_001127671.2(LIFR):c.1714A>G (p.Asn572Asp) rs774759940 0.00001
NM_001127671.2(LIFR):c.1885+13G>A rs748952768 0.00001
NM_001127671.2(LIFR):c.1970A>G (p.Tyr657Cys) rs1561140463 0.00001
NM_001127671.2(LIFR):c.2262C>T (p.Gly754=) rs886060630 0.00001
NM_001127671.2(LIFR):c.2480T>C (p.Val827Ala) rs746744753 0.00001
NM_001127671.2(LIFR):c.2720A>G (p.Asn907Ser) rs762686952 0.00001
NM_001127671.2(LIFR):c.3197G>A (p.Arg1066Gln) rs368698516 0.00001
NM_001127671.2(LIFR):c.3275A>G (p.Gln1092Arg) rs1460896687 0.00001
NM_001127671.2(LIFR):c.406C>G (p.Pro136Ala) rs761024368 0.00001
NM_001127671.2(LIFR):c.60G>C (p.Met20Ile) rs111432615 0.00001
NM_021625.5(TRPV4):c.184G>A (p.Asp62Asn) rs770149544 0.00001
NM_021625.5(TRPV4):c.2425G>A (p.Gly809Ser) rs375851168 0.00001
NM_021625.5(TRPV4):c.2471C>T (p.Ser824Leu) rs764622721 0.00001
NM_000141.5(FGFR2):c.-17G>C rs766629665
NM_000141.5(FGFR2):c.1062T>A (p.Ser354=)
NM_000141.5(FGFR2):c.1124A>T (p.Tyr375Phe) rs121913478
NM_000141.5(FGFR2):c.119C>T (p.Thr40Ile)
NM_000141.5(FGFR2):c.1200G>A (p.Met400Ile)
NM_000141.5(FGFR2):c.1252C>G (p.Leu418Val)
NM_000141.5(FGFR2):c.1262G>A (p.Arg421His)
NM_000141.5(FGFR2):c.1303A>G (p.Ser435Gly)
NM_000141.5(FGFR2):c.1325C>T (p.Thr442Ile)
NM_000141.5(FGFR2):c.1328C>G (p.Pro443Arg)
NM_000141.5(FGFR2):c.1355C>T (p.Ser452Phe)
NM_000141.5(FGFR2):c.1367A>G (p.Asp456Gly)
NM_000141.5(FGFR2):c.1372C>A (p.Pro458Thr)
NM_000141.5(FGFR2):c.151G>A (p.Val51Met)
NM_000141.5(FGFR2):c.1531G>T (p.Ala511Ser)
NM_000141.5(FGFR2):c.1562-9_1562-7delinsAA rs2133978031
NM_000141.5(FGFR2):c.1735C>T (p.Arg579Trp) rs1564875549
NM_000141.5(FGFR2):c.1800C>T (p.Phe600=)
NM_000141.5(FGFR2):c.1840A>G (p.Met614Val)
NM_000141.5(FGFR2):c.1907A>G (p.Glu636Gly)
NM_000141.5(FGFR2):c.1915G>A (p.Val639Met)
NM_000141.5(FGFR2):c.1957A>C (p.Asn653His)
NM_000141.5(FGFR2):c.195A>G (p.Lys65=)
NM_000141.5(FGFR2):c.1986+19C>G
NM_000141.5(FGFR2):c.2231C>T (p.Pro744Leu)
NM_000141.5(FGFR2):c.2240G>T (p.Arg747Ile)
NM_000141.5(FGFR2):c.2246C>T (p.Thr749Met)
NM_000141.5(FGFR2):c.2260G>A (p.Val754Ile)
NM_000141.5(FGFR2):c.2276G>A (p.Arg759Gln)
NM_000141.5(FGFR2):c.236T>G (p.Leu79Trp)
NM_000141.5(FGFR2):c.2411C>T (p.Pro804Leu)
NM_000141.5(FGFR2):c.2444_2445del (p.Ile815fs) rs771208561
NM_000141.5(FGFR2):c.248A>T (p.Asn83Ile)
NM_000141.5(FGFR2):c.257T>G (p.Val86Gly) rs1857549548
NM_000141.5(FGFR2):c.287G>A (p.Gly96Asp) rs1277734487
NM_000141.5(FGFR2):c.43A>C (p.Met15Leu)
NM_000141.5(FGFR2):c.556A>G (p.Met186Val)
NM_000141.5(FGFR2):c.610A>G (p.Ile204Val)
NM_000141.5(FGFR2):c.68C>A (p.Pro23His)
NM_000141.5(FGFR2):c.781G>A (p.Gly261Arg) rs2134317947
NM_000141.5(FGFR2):c.877C>T (p.His293Tyr) rs748526473
NM_000141.5(FGFR2):c.988C>T (p.Arg330Trp)
NM_001127671.2(LIFR):c.1007C>T (p.Pro336Leu)
NM_001127671.2(LIFR):c.1030C>T (p.His344Tyr)
NM_001127671.2(LIFR):c.1042G>A (p.Glu348Lys)
NM_001127671.2(LIFR):c.1159G>A (p.Ala387Thr)
NM_001127671.2(LIFR):c.1162C>T (p.Pro388Ser) rs1337669586
NM_001127671.2(LIFR):c.1174A>C (p.Ser392Arg)
NM_001127671.2(LIFR):c.1213A>G (p.Ile405Val)
NM_001127671.2(LIFR):c.1214T>C (p.Ile405Thr)
NM_001127671.2(LIFR):c.1215A>G (p.Ile405Met)
NM_001127671.2(LIFR):c.1250G>A (p.Gly417Asp)
NM_001127671.2(LIFR):c.1265C>T (p.Thr422Ile) rs2112471039
NM_001127671.2(LIFR):c.1292-13A>C
NM_001127671.2(LIFR):c.134A>G (p.Gln45Arg)
NM_001127671.2(LIFR):c.1350A>T (p.Lys450Asn)
NM_001127671.2(LIFR):c.1372A>G (p.Asn458Asp)
NM_001127671.2(LIFR):c.1410T>G (p.Ile470Met)
NM_001127671.2(LIFR):c.142+13G>A
NM_001127671.2(LIFR):c.1421A>G (p.Asn474Ser)
NM_001127671.2(LIFR):c.1499A>G (p.Asn500Ser)
NM_001127671.2(LIFR):c.1602T>G (p.Ser534Arg)
NM_001127671.2(LIFR):c.1646G>T (p.Gly549Val)
NM_001127671.2(LIFR):c.1675T>G (p.Leu559Val)
NM_001127671.2(LIFR):c.1705C>T (p.Leu569Phe)
NM_001127671.2(LIFR):c.1769C>T (p.Pro590Leu)
NM_001127671.2(LIFR):c.1772A>T (p.Gln591Leu)
NM_001127671.2(LIFR):c.1775A>G (p.His592Arg)
NM_001127671.2(LIFR):c.1808A>C (p.Tyr603Ser)
NM_001127671.2(LIFR):c.1808A>G (p.Tyr603Cys)
NM_001127671.2(LIFR):c.1852C>T (p.Pro618Ser)
NM_001127671.2(LIFR):c.1886-6T>C
NM_001127671.2(LIFR):c.1974C>A (p.Val658=) rs762685098
NM_001127671.2(LIFR):c.1975A>C (p.Ile659Leu)
NM_001127671.2(LIFR):c.205G>A (p.Ala69Thr) rs1299060827
NM_001127671.2(LIFR):c.2065+6A>T
NM_001127671.2(LIFR):c.2066-17A>G
NM_001127671.2(LIFR):c.2173A>G (p.Ile725Val)
NM_001127671.2(LIFR):c.2252A>G (p.Glu751Gly)
NM_001127671.2(LIFR):c.231T>C (p.Thr77=) rs2112564224
NM_001127671.2(LIFR):c.2497+14T>A rs541984532
NM_001127671.2(LIFR):c.2554G>A (p.Val852Met)
NM_001127671.2(LIFR):c.2566A>G (p.Ile856Val)
NM_001127671.2(LIFR):c.2640A>C (p.Lys880Asn)
NM_001127671.2(LIFR):c.2662G>A (p.Val888Ile)
NM_001127671.2(LIFR):c.2798C>G (p.Pro933Arg)
NM_001127671.2(LIFR):c.2801A>G (p.Glu934Gly)
NM_001127671.2(LIFR):c.2806C>G (p.Arg936Gly)
NM_001127671.2(LIFR):c.2807G>C (p.Arg936Pro)
NM_001127671.2(LIFR):c.2830C>T (p.His944Tyr)
NM_001127671.2(LIFR):c.2876C>A (p.Pro959Gln)
NM_001127671.2(LIFR):c.2890G>T (p.Asp964Tyr)
NM_001127671.2(LIFR):c.2903_2917dup (p.Val972_Ile973insArgThrAlaGlnVal)
NM_001127671.2(LIFR):c.290G>A (p.Ser97Asn)
NM_001127671.2(LIFR):c.3086G>C (p.Arg1029Thr)
NM_001127671.2(LIFR):c.3142A>G (p.Ile1048Val)
NM_001127671.2(LIFR):c.3158A>G (p.Glu1053Gly)
NM_001127671.2(LIFR):c.3159G>T (p.Glu1053Asp)
NM_001127671.2(LIFR):c.3191A>G (p.Asn1064Ser)
NM_001127671.2(LIFR):c.3200A>G (p.Gln1067Arg)
NM_001127671.2(LIFR):c.3205T>A (p.Leu1069Met)
NM_001127671.2(LIFR):c.3254G>A (p.Trp1085Ter) rs2530932659
NM_001127671.2(LIFR):c.370A>G (p.Lys124Glu)
NM_001127671.2(LIFR):c.413C>G (p.Thr138Ser) rs1580108976
NM_001127671.2(LIFR):c.434C>T (p.Ser145Phe)
NM_001127671.2(LIFR):c.554T>C (p.Val185Ala)
NM_001127671.2(LIFR):c.604C>T (p.His202Tyr)
NM_001127671.2(LIFR):c.654G>A (p.Val218=)
NM_001127671.2(LIFR):c.683A>G (p.His228Arg)
NM_001127671.2(LIFR):c.697G>A (p.Glu233Lys) rs764460986
NM_001127671.2(LIFR):c.710A>T (p.Asp237Val)
NM_001127671.2(LIFR):c.739A>G (p.Ile247Val)
NM_001127671.2(LIFR):c.73A>G (p.Asn25Asp)
NM_001127671.2(LIFR):c.760G>A (p.Val254Ile)
NM_001127671.2(LIFR):c.784C>G (p.Leu262Val)
NM_001127671.2(LIFR):c.787G>T (p.Val263Leu)
NM_001127671.2(LIFR):c.801A>G (p.Ile267Met)
NM_001127671.2(LIFR):c.803C>T (p.Thr268Ile)
NM_001127671.2(LIFR):c.812G>T (p.Cys271Phe)
NM_001127671.2(LIFR):c.846T>G (p.Ile282Met)
NM_001127671.2(LIFR):c.908A>G (p.Asn303Ser)
NM_001127671.2(LIFR):c.920C>G (p.Ser307Cys)
NM_001127671.2(LIFR):c.980T>C (p.Ile327Thr)
NM_021625.5(TRPV4):c.1667A>C (p.Tyr556Ser)
NM_021625.5(TRPV4):c.1919C>T (p.Ala640Val) rs2548718815
NM_021625.5(TRPV4):c.569C>T (p.Thr190Met) rs1031096826
NM_022970.4(FGFR2):c.1017A>G (p.Ile339Met)

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