ClinVar Miner

List of variants in gene FIG4 reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter) rs776005417 0.00022
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter) rs377357931 0.00009
NM_014845.6(FIG4):c.793C>T (p.Arg265Ter) rs774294963 0.00006
NM_014845.6(FIG4):c.262C>T (p.Arg88Ter) rs753207473 0.00004
NM_014845.6(FIG4):c.2459+1G>A rs747768373 0.00003
NM_014845.6(FIG4):c.877-2A>C rs143956557 0.00002
NM_014845.6(FIG4):c.1043_1050del (p.Asp348fs) rs1368013631 0.00001
NM_014845.6(FIG4):c.1447C>T (p.Arg483Ter) rs1228223508 0.00001
NM_014845.6(FIG4):c.1675A>T (p.Lys559Ter) rs776090013 0.00001
NM_014845.6(FIG4):c.1949-10T>G rs896444437 0.00001
NM_014845.6(FIG4):c.1A>C (p.Met1Leu) rs1490935299 0.00001
NM_014845.6(FIG4):c.2212C>T (p.Gln738Ter) rs774799167 0.00001
NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter) rs745790694 0.00001
NM_014845.6(FIG4):c.531T>G (p.Tyr177Ter) rs760575768 0.00001
NM_014845.6(FIG4):c.547C>T (p.Arg183Ter) rs121908288 0.00001
NC_000006.11:g.(?_110012639)_(110064995_?)del
NC_000006.11:g.(?_110048292)_(110053276_?)del
NC_000006.11:g.(?_110048292)_(110098283_?)del
NC_000006.12:g.(?_109691416)_(109691521_?)del
NC_000006.12:g.(?_109741424)_(109743792_?)del
NM_014845.6(FIG4):c.1096C>T (p.Gln366Ter) rs2128387076
NM_014845.6(FIG4):c.1134del (p.Lys379fs)
NM_014845.6(FIG4):c.1205del (p.Asn402fs) rs1554303800
NM_014845.6(FIG4):c.1207C>T (p.Gln403Ter) rs879253926
NM_014845.6(FIG4):c.1227del (p.His409fs)
NM_014845.6(FIG4):c.1327A>T (p.Lys443Ter) rs2128391439
NM_014845.6(FIG4):c.1373dup (p.Leu458fs) rs770043095
NM_014845.6(FIG4):c.1412_1413del (p.Val471fs) rs2128391901
NM_014845.6(FIG4):c.1445_1452del (p.Leu482fs) rs2128392205
NM_014845.6(FIG4):c.1469T>G (p.Leu490Ter)
NM_014845.6(FIG4):c.1538del (p.Gly513fs) rs1777242231
NM_014845.6(FIG4):c.156del (p.Ile52fs)
NM_014845.6(FIG4):c.1666dup (p.Thr556fs) rs772320287
NM_014845.6(FIG4):c.1688G>A (p.Trp563Ter) rs2128392620
NM_014845.6(FIG4):c.1714C>T (p.Gln572Ter)
NM_014845.6(FIG4):c.1750+1del rs764770160
NM_014845.6(FIG4):c.1762C>T (p.Gln588Ter) rs2128394568
NM_014845.6(FIG4):c.1808_1811dup (p.Pro605fs)
NM_014845.6(FIG4):c.184G>T (p.Glu62Ter)
NM_014845.6(FIG4):c.1905G>A (p.Trp635Ter)
NM_014845.6(FIG4):c.1928T>A (p.Leu643Ter) rs1488999396
NM_014845.6(FIG4):c.1986dup (p.Lys663fs) rs1197741113
NM_014845.6(FIG4):c.1A>G (p.Met1Val)
NM_014845.6(FIG4):c.1_18del (p.Met1_Ala6del) rs2128375200
NM_014845.6(FIG4):c.2065dup (p.Thr689fs) rs1777959239
NM_014845.6(FIG4):c.2071dup (p.Cys691fs)
NM_014845.6(FIG4):c.2161del (p.Thr721fs) rs2128396856
NM_014845.6(FIG4):c.2180+1del
NM_014845.6(FIG4):c.21del (p.Ile8fs)
NM_014845.6(FIG4):c.2285_2286del (p.Ser762fs) rs750712213
NM_014845.6(FIG4):c.2299dup (p.Glu767fs) rs1191997383
NM_014845.6(FIG4):c.2302G>T (p.Glu768Ter) rs2128397285
NM_014845.6(FIG4):c.2386C>T (p.Gln796Ter) rs1554309093
NM_014845.6(FIG4):c.2431_2432del (p.Ser811fs) rs1778167481
NM_014845.6(FIG4):c.317_321del (p.Tyr106fs) rs1562648414
NM_014845.6(FIG4):c.454C>T (p.Arg152Ter) rs1175493477
NM_014845.6(FIG4):c.463C>T (p.Gln155Ter)
NM_014845.6(FIG4):c.490del (p.Tyr164fs) rs769986219
NM_014845.6(FIG4):c.557del (p.Leu186fs)
NM_014845.6(FIG4):c.592C>T (p.Gln198Ter)
NM_014845.6(FIG4):c.759del (p.Phe254fs) rs764717219
NM_014845.6(FIG4):c.783del (p.Ile262fs) rs1161553940
NM_014845.6(FIG4):c.831_838del (p.Lys278fs) rs786200937

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