ClinVar Miner

List of variants in gene FIG4 reported by Ambry Genetics

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 156
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HGVS dbSNP gnomAD frequency
NM_014845.6(FIG4):c.1242T>C (p.Ile414=) rs61729087 0.00891
NM_014845.6(FIG4):c.27C>T (p.Ile9=) rs141040807 0.00398
NM_014845.6(FIG4):c.173A>G (p.Tyr58Cys) rs145337669 0.00275
NM_014845.6(FIG4):c.627A>G (p.Leu209=) rs140111406 0.00119
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_014845.6(FIG4):c.730C>T (p.Arg244Cys) rs138376077 0.00031
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn) rs138048706 0.00029
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter) rs776005417 0.00022
NM_014845.6(FIG4):c.1479C>G (p.Thr493=) rs144072304 0.00021
NM_014845.6(FIG4):c.328A>G (p.Ile110Val) rs140331779 0.00018
NM_014845.6(FIG4):c.205C>T (p.Arg69Cys) rs540674198 0.00013
NM_014845.6(FIG4):c.1271+5A>G rs374583399 0.00012
NM_014845.6(FIG4):c.102G>A (p.Thr34=) rs145711919 0.00010
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter) rs377357931 0.00009
NM_014845.6(FIG4):c.717A>G (p.Lys239=) rs750904354 0.00009
NM_014845.6(FIG4):c.101C>T (p.Thr34Met) rs375691683 0.00008
NM_014845.6(FIG4):c.1940A>G (p.Tyr647Cys) rs150301327 0.00008
NM_014845.6(FIG4):c.272C>T (p.Ser91Leu) rs753543659 0.00008
NM_014845.6(FIG4):c.2096G>A (p.Arg699His) rs750091928 0.00007
NM_014845.6(FIG4):c.2141C>T (p.Thr714Ile) rs146689226 0.00007
NM_014845.6(FIG4):c.2406T>C (p.Tyr802=) rs765557108 0.00007
NM_014845.6(FIG4):c.1187C>G (p.Ala396Gly) rs758599286 0.00006
NM_014845.6(FIG4):c.535C>T (p.Leu179Phe) rs141116831 0.00006
NM_014845.6(FIG4):c.658A>G (p.Ile220Val) rs565096937 0.00006
NM_014845.6(FIG4):c.793C>T (p.Arg265Ter) rs774294963 0.00006
NM_014845.6(FIG4):c.923C>T (p.Ala308Val) rs180689715 0.00006
NM_014845.6(FIG4):c.109C>T (p.Arg37Cys) rs368625871 0.00005
NM_014845.6(FIG4):c.1341T>C (p.Phe447=) rs199651811 0.00005
NM_014845.6(FIG4):c.2096+3A>G rs374223402 0.00005
NM_014845.6(FIG4):c.53A>G (p.Tyr18Cys) rs762687855 0.00005
NM_014845.6(FIG4):c.1091T>A (p.Met364Lys) rs772677048 0.00004
NM_014845.6(FIG4):c.1158T>C (p.His386=) rs370557879 0.00004
NM_014845.6(FIG4):c.1405G>A (p.Gly469Arg) rs201742496 0.00004
NM_014845.6(FIG4):c.2080A>G (p.Met694Val) rs143531641 0.00004
NM_014845.6(FIG4):c.2095C>T (p.Arg699Cys) rs764799053 0.00004
NM_014845.6(FIG4):c.266C>T (p.Ala89Val) rs763532414 0.00004
NM_014845.6(FIG4):c.33G>C (p.Ser11=) rs527523781 0.00004
NM_014845.6(FIG4):c.794G>A (p.Arg265Gln) rs768713956 0.00004
NM_014845.6(FIG4):c.14C>T (p.Ala5Val) rs915749340 0.00003
NM_014845.6(FIG4):c.2360G>A (p.Ser787Asn) rs377017892 0.00003
NM_014845.6(FIG4):c.2459+1G>A rs747768373 0.00003
NM_014845.6(FIG4):c.382G>A (p.Glu128Lys) rs769125243 0.00003
NM_014845.6(FIG4):c.421C>T (p.Arg141Trp) rs750102036 0.00003
NM_014845.6(FIG4):c.872G>A (p.Cys291Tyr) rs766829595 0.00003
NM_014845.6(FIG4):c.1313A>G (p.Glu438Gly) rs535554973 0.00002
NM_014845.6(FIG4):c.1376G>A (p.Arg459Gln) rs141309562 0.00002
NM_014845.6(FIG4):c.1809G>A (p.Gly603=) rs148280593 0.00002
NM_014845.6(FIG4):c.2113A>G (p.Thr705Ala) rs766031746 0.00002
NM_014845.6(FIG4):c.2405A>G (p.Tyr802Cys) rs370293982 0.00002
NM_014845.6(FIG4):c.321T>G (p.Ile107Met) rs372854425 0.00002
NM_014845.6(FIG4):c.366T>C (p.His122=) rs772376305 0.00002
NM_014845.6(FIG4):c.809C>T (p.Thr270Ile) rs762123072 0.00002
NM_014845.6(FIG4):c.877-2A>C rs143956557 0.00002
NM_014845.6(FIG4):c.116T>C (p.Leu39Ser) rs373630745 0.00001
NM_014845.6(FIG4):c.1228A>G (p.Thr410Ala) rs142463699 0.00001
NM_014845.6(FIG4):c.1350C>G (p.Arg450=) rs763035100 0.00001
NM_014845.6(FIG4):c.1375C>T (p.Arg459Trp) rs1220742669 0.00001
NM_014845.6(FIG4):c.1525C>T (p.Leu509=) rs146488614 0.00001
NM_014845.6(FIG4):c.1555A>G (p.Asn519Asp) rs374129146 0.00001
NM_014845.6(FIG4):c.1812A>G (p.Lys604=) rs1399930708 0.00001
NM_014845.6(FIG4):c.1838A>G (p.Asp613Gly) rs1243225247 0.00001
NM_014845.6(FIG4):c.202G>A (p.Gly68Ser) rs745860370 0.00001
NM_014845.6(FIG4):c.2036G>A (p.Arg679Gln) rs192447225 0.00001
NM_014845.6(FIG4):c.2238G>A (p.Pro746=) rs753867543 0.00001
NM_014845.6(FIG4):c.2250C>T (p.Ser750=) rs751694228 0.00001
NM_014845.6(FIG4):c.2289G>A (p.Gly763=) rs756539176 0.00001
NM_014845.6(FIG4):c.2319T>C (p.Ser773=) rs745397940 0.00001
NM_014845.6(FIG4):c.2382G>A (p.Val794=) rs1201567620 0.00001
NM_014845.6(FIG4):c.2444T>C (p.Phe815Ser) rs375414729 0.00001
NM_014845.6(FIG4):c.2469G>T (p.Gln823His) rs768773104 0.00001
NM_014845.6(FIG4):c.251C>T (p.Ser84Leu) rs768384237 0.00001
NM_014845.6(FIG4):c.2547-1G>A rs769858739 0.00001
NM_014845.6(FIG4):c.2660T>C (p.Met887Thr) rs780643086 0.00001
NM_014845.6(FIG4):c.2687C>G (p.Ser896Cys) rs776236607 0.00001
NM_014845.6(FIG4):c.52T>C (p.Tyr18His) rs1774396046 0.00001
NM_014845.6(FIG4):c.531T>G (p.Tyr177Ter) rs760575768 0.00001
NM_014845.6(FIG4):c.548G>A (p.Arg183Gln) rs781588508 0.00001
NM_014845.6(FIG4):c.559G>A (p.Glu187Lys) rs370115339 0.00001
NM_014845.6(FIG4):c.589C>T (p.Arg197Cys) rs770528195 0.00001
NM_014845.6(FIG4):c.764G>A (p.Cys255Tyr) rs1776227536 0.00001
NM_014845.6(FIG4):c.788A>G (p.Tyr263Cys) rs370148297 0.00001
NM_014845.6(FIG4):c.1090A>C (p.Met364Leu) rs2295837
NM_014845.6(FIG4):c.1117A>G (p.Ile373Val)
NM_014845.6(FIG4):c.1120A>G (p.Ile374Val)
NM_014845.6(FIG4):c.112G>A (p.Val38Ile) rs761940298
NM_014845.6(FIG4):c.1168C>G (p.Leu390Val)
NM_014845.6(FIG4):c.1239_1241inv (p.Tyr413_Ile414delinsTer)
NM_014845.6(FIG4):c.1327A>G (p.Lys443Glu)
NM_014845.6(FIG4):c.1330A>T (p.Thr444Ser)
NM_014845.6(FIG4):c.1349G>A (p.Arg450His) rs188547769
NM_014845.6(FIG4):c.1373dup (p.Leu458fs) rs770043095
NM_014845.6(FIG4):c.1389-1G>C
NM_014845.6(FIG4):c.1420A>G (p.Thr474Ala)
NM_014845.6(FIG4):c.1565T>G (p.Phe522Cys)
NM_014845.6(FIG4):c.1575T>A (p.Asp525Glu)
NM_014845.6(FIG4):c.1583+6T>G
NM_014845.6(FIG4):c.165+2T>C
NM_014845.6(FIG4):c.1652T>C (p.Val551Ala)
NM_014845.6(FIG4):c.1703A>G (p.Lys568Arg) rs1064797016
NM_014845.6(FIG4):c.1740T>C (p.Asn580=) rs1554304608
NM_014845.6(FIG4):c.1749_1750+7del rs1777296419
NM_014845.6(FIG4):c.1770C>T (p.Ser590=) rs1057524489
NM_014845.6(FIG4):c.1775A>G (p.Asn592Ser)
NM_014845.6(FIG4):c.1808_1811dup (p.Pro605fs)
NM_014845.6(FIG4):c.1815T>G (p.Pro605=)
NM_014845.6(FIG4):c.1877C>T (p.Pro626Leu) rs772937400
NM_014845.6(FIG4):c.1879A>G (p.Thr627Ala) rs762859144
NM_014845.6(FIG4):c.1902G>T (p.Trp634Cys)
NM_014845.6(FIG4):c.1928T>A (p.Leu643Ter) rs1488999396
NM_014845.6(FIG4):c.1954T>C (p.Cys652Arg)
NM_014845.6(FIG4):c.2014G>T (p.Asp672Tyr)
NM_014845.6(FIG4):c.206G>A (p.Arg69His)
NM_014845.6(FIG4):c.2082G>T (p.Met694Ile)
NM_014845.6(FIG4):c.2095C>G (p.Arg699Gly)
NM_014845.6(FIG4):c.2144T>G (p.Val715Gly)
NM_014845.6(FIG4):c.2152C>G (p.Pro718Ala) rs199801181
NM_014845.6(FIG4):c.2155G>T (p.Asp719Tyr) rs2128396850
NM_014845.6(FIG4):c.2223G>T (p.Thr741=) rs181012139
NM_014845.6(FIG4):c.222T>G (p.Asn74Lys)
NM_014845.6(FIG4):c.2234C>G (p.Ala745Gly)
NM_014845.6(FIG4):c.2241G>A (p.Pro747=) rs148589135
NM_014845.6(FIG4):c.2241G>C (p.Pro747=) rs148589135
NM_014845.6(FIG4):c.2242C>T (p.Pro748Ser)
NM_014845.6(FIG4):c.2299dup (p.Glu767fs) rs1191997383
NM_014845.6(FIG4):c.2325C>T (p.Arg775=)
NM_014845.6(FIG4):c.2327C>G (p.Ser776Cys) rs760215765
NM_014845.6(FIG4):c.2329A>C (p.Thr777Pro) rs1778137467
NM_014845.6(FIG4):c.2376+4C>T
NM_014845.6(FIG4):c.2377-1G>A
NM_014845.6(FIG4):c.2377-5C>T
NM_014845.6(FIG4):c.2431T>C (p.Ser811Pro)
NM_014845.6(FIG4):c.2433AGA[2] (p.Glu813del) rs876661144
NM_014845.6(FIG4):c.2445C>G (p.Phe815Leu)
NM_014845.6(FIG4):c.2523G>A (p.Arg841=) rs1554309865
NM_014845.6(FIG4):c.2547-5T>G rs200267243
NM_014845.6(FIG4):c.2568G>A (p.Ser856=) rs140055056
NM_014845.6(FIG4):c.2591A>G (p.Gln864Arg) rs539773516
NM_014845.6(FIG4):c.2662C>T (p.Gln888Ter) rs1306576733
NM_014845.6(FIG4):c.2704A>C (p.Ile902Leu)
NM_014845.6(FIG4):c.289+2T>C
NM_014845.6(FIG4):c.348G>T (p.Met116Ile)
NM_014845.6(FIG4):c.35T>C (p.Val12Ala)
NM_014845.6(FIG4):c.365A>G (p.His122Arg)
NM_014845.6(FIG4):c.401A>C (p.Tyr134Ser) rs571563767
NM_014845.6(FIG4):c.479C>G (p.Ser160Cys)
NM_014845.6(FIG4):c.502A>C (p.Ser168Arg)
NM_014845.6(FIG4):c.545T>C (p.Leu182Ser)
NM_014845.6(FIG4):c.592C>T (p.Gln198Ter)
NM_014845.6(FIG4):c.604G>A (p.Asp202Asn)
NM_014845.6(FIG4):c.640G>A (p.Gly214Arg) rs529048339
NM_014845.6(FIG4):c.676A>G (p.Met226Val)
NM_014845.6(FIG4):c.705G>T (p.Leu235=) rs1026195072
NM_014845.6(FIG4):c.762C>T (p.Phe254=) rs201013726
NM_014845.6(FIG4):c.831_838del (p.Lys278fs) rs786200937
NM_014845.6(FIG4):c.870C>T (p.Asn290=) rs1236653957
NM_014845.6(FIG4):c.998C>T (p.Ser333Phe)

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