ClinVar Miner

List of variants in gene FBLN5 studied for congenital entropion

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_006329.4(FBLN5):c.945T>C (p.Ile315=) rs2430347 0.76291
NM_006329.4(FBLN5):c.-414C>T rs7149187 0.26340
NM_006329.4(FBLN5):c.*623A>T rs77357345 0.02046
NM_006329.4(FBLN5):c.*514A>G rs17804735 0.01698
NM_006329.4(FBLN5):c.1122C>T (p.Tyr374=) rs145515678 0.01635
NM_006329.4(FBLN5):c.989+13G>A rs74071605 0.01368
NM_006329.4(FBLN5):c.863-13C>T rs74071606 0.01336
NM_006329.4(FBLN5):c.*326G>A rs79375113 0.01197
NM_006329.4(FBLN5):c.*329T>C rs115237925 0.01197
NM_006329.4(FBLN5):c.*423T>C rs17731705 0.00543
NM_006329.4(FBLN5):c.502+15G>C rs190933127 0.00456
NM_006329.4(FBLN5):c.620-8T>C rs147699855 0.00324
NM_006329.4(FBLN5):c.*647C>T rs10197 0.00262
NM_006329.4(FBLN5):c.-411A>G rs143296045 0.00240
NM_006329.4(FBLN5):c.-152C>T rs139387007 0.00199
NM_006329.4(FBLN5):c.376G>A (p.Val126Met) rs61734479 0.00199
NM_006329.4(FBLN5):c.*648G>A rs182435130 0.00140
NM_006329.4(FBLN5):c.714T>A (p.Leu238=) rs141152607 0.00134
NM_006329.4(FBLN5):c.*363C>T rs536827304 0.00049
NM_006329.4(FBLN5):c.*121C>T rs548351890 0.00033
NM_006329.4(FBLN5):c.143C>T (p.Thr48Ile) rs141200859 0.00026
NM_006329.4(FBLN5):c.989+9C>T rs557362799 0.00026
NM_006329.4(FBLN5):c.862+12C>T rs202088447 0.00025
NM_006329.4(FBLN5):c.621T>C (p.Asp207=) rs200178859 0.00021
NM_006329.4(FBLN5):c.1241G>A (p.Arg414Gln) rs142907552 0.00019
NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser) rs144288844 0.00019
NM_006329.4(FBLN5):c.1191G>A (p.Thr397=) rs148660796 0.00014
NM_006329.4(FBLN5):c.604G>A (p.Gly202Arg) rs80338765 0.00013
NM_006329.4(FBLN5):c.1051C>T (p.Arg351Trp) rs28939073 0.00010
NM_006329.4(FBLN5):c.*98G>A rs568348723 0.00009
NM_006329.4(FBLN5):c.*426C>T rs553193064 0.00008
NM_006329.4(FBLN5):c.1113G>A (p.Thr371=) rs560780691 0.00008
NM_006329.4(FBLN5):c.-413C>T rs886050892 0.00007
NM_006329.4(FBLN5):c.901C>A (p.Leu301Met) rs377360782 0.00005
NM_006329.4(FBLN5):c.-57G>A rs546827390 0.00004
NM_006329.4(FBLN5):c.273G>A (p.Pro91=) rs368771780 0.00004
NM_006329.4(FBLN5):c.*458T>C rs886050887 0.00003
NM_006329.4(FBLN5):c.-458G>A rs369441736 0.00002
NM_006329.4(FBLN5):c.739+14G>A rs1390709680 0.00002
NM_006329.4(FBLN5):c.*419G>C rs1451509746 0.00001
NM_006329.4(FBLN5):c.*653G>A rs886050886 0.00001
NM_006329.4(FBLN5):c.*775A>C rs886050885 0.00001
NM_006329.4(FBLN5):c.*77T>A rs1326922015 0.00001
NM_006329.4(FBLN5):c.-382C>G rs886050890 0.00001
NM_006329.4(FBLN5):c.1183C>T (p.Arg395Trp) rs372650987 0.00001
NM_006329.4(FBLN5):c.245A>C (p.Asn82Thr) rs759508064 0.00001
NM_006329.4(FBLN5):c.251A>G (p.Tyr84Cys) rs886050889 0.00001
NM_006329.4(FBLN5):c.336A>G (p.Ile112Met) rs1221579102 0.00001
NM_006329.4(FBLN5):c.573A>G (p.Thr191=) rs756288143 0.00001
NM_006329.4(FBLN5):c.676G>A (p.Gly226Ser) rs747288805 0.00001
NG_008254.1:g.48570_71295dup22726
NM_006329.3(FBLN5):c.380-9061_873dup
NM_006329.4(FBLN5):c.-139C>T rs554315938
NM_006329.4(FBLN5):c.-389C>A rs886050891
NM_006329.4(FBLN5):c.-428G>C rs886050893
NM_006329.4(FBLN5):c.-77C>G rs751344551
NM_006329.4(FBLN5):c.1063G>C (p.Val355Leu) rs754104809
NM_006329.4(FBLN5):c.1090G>T (p.Asp364Tyr) rs1802492
NM_006329.4(FBLN5):c.1130C>T (p.Ala377Val) rs1889226797
NM_006329.4(FBLN5):c.1134T>G (p.Tyr378Ter) rs746506432
NM_006329.4(FBLN5):c.1171G>T (p.Glu391Ter) rs80338767
NM_006329.4(FBLN5):c.1201_1202del (p.Ser401fs) rs1595286986
NM_006329.4(FBLN5):c.124+8C>A rs2056089374
NM_006329.4(FBLN5):c.1307T>A (p.Val436Glu) rs1453600644
NM_006329.4(FBLN5):c.388G>A (p.Glu130Lys) rs886050888
NM_006329.4(FBLN5):c.422C>T (p.Thr141Ile) rs1890163941
NM_006329.4(FBLN5):c.432C>G (p.Cys144Trp)
NM_006329.4(FBLN5):c.649T>C (p.Cys217Arg) rs80338766
NM_006329.4(FBLN5):c.679T>C (p.Ser227Pro) rs28939370
NM_006329.4(FBLN5):c.726C>G (p.Gly242=) rs148209555
NM_006329.4(FBLN5):c.850C>T (p.Arg284Ter) rs2139960687

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