ClinVar Miner

List of variants in gene FBLN5 studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 63
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HGVS dbSNP
NM_006329.3(FBLN5):c.*121C>T
NM_006329.3(FBLN5):c.*326G>A rs79375113
NM_006329.3(FBLN5):c.*329T>C rs115237925
NM_006329.3(FBLN5):c.*363C>T rs536827304
NM_006329.3(FBLN5):c.*419G>C
NM_006329.3(FBLN5):c.*423T>C rs17731705
NM_006329.3(FBLN5):c.*426C>T
NM_006329.3(FBLN5):c.*458T>C rs886050887
NM_006329.3(FBLN5):c.*514A>G rs17804735
NM_006329.3(FBLN5):c.*623A>T rs77357345
NM_006329.3(FBLN5):c.*647C>T rs10197
NM_006329.3(FBLN5):c.*648G>A rs182435130
NM_006329.3(FBLN5):c.*653G>A rs886050886
NM_006329.3(FBLN5):c.*775A>C rs886050885
NM_006329.3(FBLN5):c.*77T>A
NM_006329.3(FBLN5):c.*98G>A rs568348723
NM_006329.3(FBLN5):c.-139C>T rs554315938
NM_006329.3(FBLN5):c.-152C>T rs139387007
NM_006329.3(FBLN5):c.-382C>G rs886050890
NM_006329.3(FBLN5):c.-389C>A rs886050891
NM_006329.3(FBLN5):c.-411A>G rs143296045
NM_006329.3(FBLN5):c.-413C>T rs886050892
NM_006329.3(FBLN5):c.-414C>T rs7149187
NM_006329.3(FBLN5):c.-428G>C rs886050893
NM_006329.3(FBLN5):c.-458G>A rs369441736
NM_006329.3(FBLN5):c.-57G>A rs546827390
NM_006329.3(FBLN5):c.-77C>G
NM_006329.3(FBLN5):c.1051C>T (p.Arg351Trp) rs28939073
NM_006329.3(FBLN5):c.1063G>C (p.Val355Leu)
NM_006329.3(FBLN5):c.1087G>A (p.Ala363Thr) rs121434302
NM_006329.3(FBLN5):c.1113G>A (p.Thr371=) rs560780691
NM_006329.3(FBLN5):c.1117C>T (p.Arg373Cys) rs864309526
NM_006329.3(FBLN5):c.1122C>T (p.Tyr374=) rs145515678
NM_006329.3(FBLN5):c.1183C>T (p.Arg395Trp) rs372650987
NM_006329.3(FBLN5):c.1191G>A (p.Thr397=) rs148660796
NM_006329.3(FBLN5):c.1201_1202del (p.Ser401fs) rs1595286986
NM_006329.3(FBLN5):c.1235G>A (p.Gly412Glu) rs121434303
NM_006329.3(FBLN5):c.124+8C>A
NM_006329.3(FBLN5):c.1241G>A (p.Arg414Gln)
NM_006329.3(FBLN5):c.178G>C (p.Val60Leu) rs121434299
NM_006329.3(FBLN5):c.212G>A (p.Arg71Gln) rs121434300
NM_006329.3(FBLN5):c.251A>G (p.Tyr84Cys) rs886050889
NM_006329.3(FBLN5):c.259C>T (p.Pro87Ser) rs121434301
NM_006329.3(FBLN5):c.268G>A (p.Gly90Ser) rs144288844
NM_006329.3(FBLN5):c.273G>A (p.Pro91=)
NM_006329.3(FBLN5):c.336A>G (p.Ile112Met)
NM_006329.3(FBLN5):c.376G>A (p.Val126Met) rs61734479
NM_006329.3(FBLN5):c.388G>A (p.Glu130Lys) rs886050888
NM_006329.3(FBLN5):c.502+15G>C rs190933127
NM_006329.3(FBLN5):c.506T>C (p.Ile169Thr) rs28939072
NM_006329.3(FBLN5):c.573A>G (p.Thr191=)
NM_006329.3(FBLN5):c.604G>A (p.Gly202Arg) rs80338765
NM_006329.3(FBLN5):c.620-8T>C rs147699855
NM_006329.3(FBLN5):c.621T>C (p.Asp207=) rs200178859
NM_006329.3(FBLN5):c.676G>A (p.Gly226Ser) rs747288805
NM_006329.3(FBLN5):c.714T>A (p.Leu238=) rs141152607
NM_006329.3(FBLN5):c.726C>G (p.Gly242=)
NM_006329.3(FBLN5):c.862+12C>T rs202088447
NM_006329.3(FBLN5):c.863-13C>T rs74071606
NM_006329.3(FBLN5):c.901C>A (p.Leu301Met)
NM_006329.3(FBLN5):c.945T>C (p.Ile315=) rs2430347
NM_006329.3(FBLN5):c.989+13G>A rs74071605
NM_006329.3(FBLN5):c.989+9C>T rs557362799

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