ClinVar Miner

List of variants in gene FGFR1 reported as uncertain significance for lipomatosis

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 94
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HGVS dbSNP gnomAD frequency
NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile) rs200776757 0.00044
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr) rs121909633 0.00040
NM_023110.3(FGFR1):c.422C>G (p.Thr141Arg) rs200482627 0.00014
NM_023110.3(FGFR1):c.231C>G (p.Asn77Lys) rs767195580 0.00011
NM_023110.3(FGFR1):c.1186G>A (p.Val396Ile) rs752627281 0.00007
NM_023110.3(FGFR1):c.2370_2371del (p.Glu792fs) rs767698667 0.00005
NM_023110.3(FGFR1):c.2428C>T (p.His810Tyr) rs759376422 0.00004
NM_023110.3(FGFR1):c.937-14G>A rs779223305 0.00004
NM_023110.3(FGFR1):c.1408C>T (p.Arg470Cys) rs781310679 0.00003
NM_023110.3(FGFR1):c.173G>A (p.Arg58Gln) rs200116660 0.00003
NM_023110.3(FGFR1):c.2107G>A (p.Gly703Ser) rs768957161 0.00003
NM_023110.3(FGFR1):c.266A>G (p.Gln89Arg) rs773938208 0.00003
NM_023110.3(FGFR1):c.378G>T (p.Glu126Asp) rs758823379 0.00003
NM_023110.3(FGFR1):c.566G>A (p.Arg189His) rs778166317 0.00003
NM_023110.3(FGFR1):c.1139A>G (p.Tyr380Cys) rs777103792 0.00002
NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp) rs749903780 0.00002
NM_023110.3(FGFR1):c.1809C>T (p.Cys603=) rs377314381 0.00002
NM_023110.3(FGFR1):c.2344G>A (p.Asp782Asn) rs776189467 0.00002
NM_023110.3(FGFR1):c.2426G>A (p.Arg809Gln) rs771680156 0.00002
NM_023110.3(FGFR1):c.2461C>T (p.Arg821Cys) rs768736835 0.00002
NM_023110.3(FGFR1):c.2465G>A (p.Arg822His) rs758677681 0.00002
NM_023110.3(FGFR1):c.*112C>T rs1189535138 0.00001
NM_023110.3(FGFR1):c.1072G>A (p.Val358Ile) rs774768179 0.00001
NM_023110.3(FGFR1):c.1078G>A (p.Glu360Lys) rs982371464 0.00001
NM_023110.3(FGFR1):c.1114C>T (p.Pro372Ser) rs377648976 0.00001
NM_023110.3(FGFR1):c.1179G>A (p.Ser393=) rs374674165 0.00001
NM_023110.3(FGFR1):c.128T>G (p.Phe43Cys) rs1085307493 0.00001
NM_023110.3(FGFR1):c.1333C>T (p.Arg445Trp) rs781608303 0.00001
NM_023110.3(FGFR1):c.1399G>A (p.Glu467Lys) rs923019674 0.00001
NM_023110.3(FGFR1):c.1424G>A (p.Arg475Gln) rs747333248 0.00001
NM_023110.3(FGFR1):c.1447C>T (p.Pro483Ser) rs397515444 0.00001
NM_023110.3(FGFR1):c.166C>T (p.Arg56Trp) rs1034848904 0.00001
NM_023110.3(FGFR1):c.1711G>A (p.Glu571Lys) rs771720144 0.00001
NM_023110.3(FGFR1):c.1774G>A (p.Glu592Lys) rs755002934 0.00001
NM_023110.3(FGFR1):c.1775A>G (p.Glu592Gly) rs751840290 0.00001
NM_023110.3(FGFR1):c.178G>A (p.Asp60Asn) rs1586379709 0.00001
NM_023110.3(FGFR1):c.2023C>T (p.Arg675Trp) rs375611478 0.00001
NM_023110.3(FGFR1):c.205G>A (p.Asp69Asn) rs1309311395 0.00001
NM_023110.3(FGFR1):c.20T>G (p.Leu7Arg) rs532741632 0.00001
NM_023110.3(FGFR1):c.2200C>T (p.Arg734Trp) rs1329256283 0.00001
NM_023110.3(FGFR1):c.2350C>T (p.Arg784Trp) rs377149398 0.00001
NM_023110.3(FGFR1):c.2407G>A (p.Glu803Lys) rs765900637 0.00001
NM_023110.3(FGFR1):c.2425C>T (p.Arg809Ter) rs775166971 0.00001
NM_023110.3(FGFR1):c.245C>G (p.Thr82Arg) rs760780809 0.00001
NM_023110.3(FGFR1):c.268G>T (p.Asp90Tyr) rs770577710 0.00001
NM_023110.3(FGFR1):c.274G>A (p.Val92Met) rs755828990 0.00001
NM_023110.3(FGFR1):c.332C>T (p.Thr111Ile) rs775020833 0.00001
NM_023110.3(FGFR1):c.346G>A (p.Val116Ile) rs747842199 0.00001
NM_023110.3(FGFR1):c.381T>G (p.Asp127Glu) rs750795714 0.00001
NM_023110.3(FGFR1):c.399C>A (p.Asp133Glu) rs1213683426 0.00001
NM_023110.3(FGFR1):c.403T>A (p.Ser135Thr) rs775228360 0.00001
NM_023110.3(FGFR1):c.442C>T (p.Arg148Cys) rs780153672 0.00001
NM_023110.3(FGFR1):c.443G>A (p.Arg148His) rs515726222 0.00001
NM_023110.3(FGFR1):c.584A>G (p.Lys195Arg) rs770139002 0.00001
NM_023110.3(FGFR1):c.8G>A (p.Ser3Asn) rs751651299 0.00001
NM_023110.3(FGFR1):c.-88-3566dup rs1424371425
NM_023110.3(FGFR1):c.1039A>G (p.Ile347Val)
NM_023110.3(FGFR1):c.112G>A (p.Val38Met) rs377555354
NM_023110.3(FGFR1):c.1137C>T (p.Ile379=)
NM_023110.3(FGFR1):c.1171G>A (p.Val391Met)
NM_023110.3(FGFR1):c.1196T>C (p.Met399Thr)
NM_023110.3(FGFR1):c.1270C>A (p.Arg424Ser)
NM_023110.3(FGFR1):c.1285-18C>G
NM_023110.3(FGFR1):c.1288T>A (p.Ser430Thr)
NM_023110.3(FGFR1):c.1309A>G (p.Met437Val)
NM_023110.3(FGFR1):c.1352C>A (p.Ser451Tyr) rs374672119
NM_023110.3(FGFR1):c.1383T>C (p.Ser461=)
NM_023110.3(FGFR1):c.1409G>A (p.Arg470His) rs121909637
NM_023110.3(FGFR1):c.148C>T (p.Leu50=)
NM_023110.3(FGFR1):c.1495G>A (p.Gly499Arg) rs759552236
NM_023110.3(FGFR1):c.1694C>T (p.Ser565Phe) rs768223019
NM_023110.3(FGFR1):c.1710G>T (p.Arg570=)
NM_023110.3(FGFR1):c.1727G>A (p.Arg576Gln) rs1482868825
NM_023110.3(FGFR1):c.1767C>A (p.His589Gln)
NM_023110.3(FGFR1):c.176A>T (p.Asp59Val)
NM_023110.3(FGFR1):c.1793A>C (p.Lys598Thr)
NM_023110.3(FGFR1):c.2031C>T (p.Tyr677=)
NM_023110.3(FGFR1):c.2121G>A (p.Glu707=)
NM_023110.3(FGFR1):c.2150A>G (p.His717Arg)
NM_023110.3(FGFR1):c.2228A>G (p.Gln743Arg)
NM_023110.3(FGFR1):c.2251G>A (p.Val751Met) rs2150520798
NM_023110.3(FGFR1):c.2292G>C (p.Gln764His)
NM_023110.3(FGFR1):c.2313G>A (p.Met771Ile)
NM_023110.3(FGFR1):c.2323C>G (p.Gln775Glu) rs1232665126
NM_023110.3(FGFR1):c.2360C>T (p.Thr787Met)
NM_023110.3(FGFR1):c.2413C>T (p.Pro805Ser)
NM_023110.3(FGFR1):c.281C>A (p.Ala94Glu) rs150973404
NM_023110.3(FGFR1):c.289G>T (p.Gly97Cys) rs1260404537
NM_023110.3(FGFR1):c.622-20C>T
NM_023110.3(FGFR1):c.626G>A (p.Arg209His)
NM_023110.3(FGFR1):c.746-14C>T rs1171714073
NM_023110.3(FGFR1):c.789C>T (p.Ala263=) rs780944776
NM_023110.3(FGFR1):c.827T>C (p.Met276Thr)
NM_023110.3(FGFR1):c.92-14C>A

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