ClinVar Miner

List of variants in gene AGRN reported as uncertain significance for Myasthenic syndrome, congenital, 8

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Gene type:
ClinVar version:
Total variants: 213
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HGVS dbSNP
NM_198576.4(AGRN):c.1009A>G (p.Thr337Ala)
NM_198576.4(AGRN):c.102C>T (p.Arg34=)
NM_198576.4(AGRN):c.1054C>G (p.Arg352Gly) rs149868381
NM_198576.4(AGRN):c.1112G>A (p.Gly371Asp)
NM_198576.4(AGRN):c.1130G>A (p.Arg377Gln) rs1553174827
NM_198576.4(AGRN):c.1144C>A (p.Gln382Lys) rs1557701584
NM_198576.4(AGRN):c.1145A>G (p.Gln382Arg) rs1553174830
NM_198576.4(AGRN):c.1198C>T (p.Arg400Trp) rs149636063
NM_198576.4(AGRN):c.1238G>A (p.Arg413His)
NM_198576.4(AGRN):c.1249G>A (p.Asp417Asn)
NM_198576.4(AGRN):c.1342C>T (p.Arg448Trp)
NM_198576.4(AGRN):c.1405C>T (p.Leu469Phe)
NM_198576.4(AGRN):c.1411G>A (p.Val471Met)
NM_198576.4(AGRN):c.1427G>C (p.Gly476Ala)
NM_198576.4(AGRN):c.1539C>T (p.Cys513=) rs370615022
NM_198576.4(AGRN):c.1540G>A (p.Glu514Lys)
NM_198576.4(AGRN):c.1580A>C (p.Gln527Pro)
NM_198576.4(AGRN):c.1589G>A (p.Arg530His)
NM_198576.4(AGRN):c.1589G>T (p.Arg530Leu)
NM_198576.4(AGRN):c.1606C>T (p.Arg536Cys)
NM_198576.4(AGRN):c.1612G>A (p.Gly538Arg)
NM_198576.4(AGRN):c.1612G>T (p.Gly538Trp)
NM_198576.4(AGRN):c.1638C>T (p.Cys546=)
NM_198576.4(AGRN):c.1696G>A (p.Val566Met)
NM_198576.4(AGRN):c.1721A>T (p.Tyr574Phe) rs749074796
NM_198576.4(AGRN):c.172G>A (p.Asp58Asn)
NM_198576.4(AGRN):c.1744G>A (p.Val582Met)
NM_198576.4(AGRN):c.1769G>A (p.Ser590Asn)
NM_198576.4(AGRN):c.183G>C (p.Gln61His)
NM_198576.4(AGRN):c.1864C>T (p.Arg622Trp)
NM_198576.4(AGRN):c.1865G>A (p.Arg622Gln) rs140789461
NM_198576.4(AGRN):c.1879C>T (p.Pro627Ser)
NM_198576.4(AGRN):c.1891G>A (p.Val631Met) rs748716996
NM_198576.4(AGRN):c.1918G>A (p.Gly640Ser) rs759762952
NM_198576.4(AGRN):c.1937G>A (p.Arg646Gln)
NM_198576.4(AGRN):c.1969G>A (p.Glu657Lys) rs377567167
NM_198576.4(AGRN):c.1995G>T (p.Glu665Asp) rs752339788
NM_198576.4(AGRN):c.1999+6C>G
NM_198576.4(AGRN):c.2038G>A (p.Gly680Ser)
NM_198576.4(AGRN):c.2105C>T (p.Pro702Leu)
NM_198576.4(AGRN):c.2134G>A (p.Val712Ile)
NM_198576.4(AGRN):c.2182G>A (p.Glu728Lys) rs757879583
NM_198576.4(AGRN):c.2219G>A (p.Arg740Gln)
NM_198576.4(AGRN):c.2241G>C (p.Gln747His) rs144361725
NM_198576.4(AGRN):c.2255-3C>T
NM_198576.4(AGRN):c.2276C>T (p.Pro759Leu) rs1214623286
NM_198576.4(AGRN):c.2329A>G (p.Asn777Asp)
NM_198576.4(AGRN):c.232G>A (p.Asp78Asn)
NM_198576.4(AGRN):c.2338G>A (p.Ala780Thr)
NM_198576.4(AGRN):c.2496C>G (p.Asn832Lys)
NM_198576.4(AGRN):c.2501G>A (p.Arg834Gln) rs146243145
NM_198576.4(AGRN):c.2536+4A>G
NM_198576.4(AGRN):c.2536C>T (p.Pro846Ser)
NM_198576.4(AGRN):c.2647G>A (p.Gly883Ser) rs145162376
NM_198576.4(AGRN):c.2651G>A (p.Arg884His) rs369686860
NM_198576.4(AGRN):c.2696C>T (p.Ala899Val)
NM_198576.4(AGRN):c.2705C>T (p.Ala902Val)
NM_198576.4(AGRN):c.2713C>T (p.Arg905Cys) rs199593375
NM_198576.4(AGRN):c.2732G>A (p.Arg911Gln) rs773144997
NM_198576.4(AGRN):c.2737G>A (p.Val913Met) rs140120617
NM_198576.4(AGRN):c.2798C>T (p.Ala933Val)
NM_198576.4(AGRN):c.2866C>T (p.Arg956Cys)
NM_198576.4(AGRN):c.2903C>T (p.Pro968Leu)
NM_198576.4(AGRN):c.2950G>A (p.Val984Met) rs371483148
NM_198576.4(AGRN):c.2971C>T (p.Leu991Phe)
NM_198576.4(AGRN):c.2987C>A (p.Ala996Glu) rs148475305
NM_198576.4(AGRN):c.298C>T (p.Pro100Ser)
NM_198576.4(AGRN):c.3001C>A (p.Pro1001Thr)
NM_198576.4(AGRN):c.3034G>A (p.Ala1012Thr)
NM_198576.4(AGRN):c.3046A>G (p.Thr1016Ala) rs1553176512
NM_198576.4(AGRN):c.3056C>T (p.Pro1019Leu)
NM_198576.4(AGRN):c.3119C>T (p.Thr1040Met) rs751987634
NM_198576.4(AGRN):c.3264G>T (p.Leu1088Phe)
NM_198576.4(AGRN):c.3325G>A (p.Ala1109Thr)
NM_198576.4(AGRN):c.3353C>T (p.Thr1118Met)
NM_198576.4(AGRN):c.3387C>T (p.Pro1129=) rs758046832
NM_198576.4(AGRN):c.3409G>A (p.Val1137Ile)
NM_198576.4(AGRN):c.3515C>A (p.Thr1172Asn)
NM_198576.4(AGRN):c.3532C>T (p.Arg1178Trp)
NM_198576.4(AGRN):c.3560G>A (p.Arg1187Gln)
NM_198576.4(AGRN):c.3569G>A (p.Arg1190His) rs149762107
NM_198576.4(AGRN):c.3575G>A (p.Arg1192Gln) rs200339732
NM_198576.4(AGRN):c.3579C>G (p.Asp1193Glu)
NM_198576.4(AGRN):c.362C>A (p.Pro121His) rs533320704
NM_198576.4(AGRN):c.3662G>A (p.Arg1221Gln) rs764139323
NM_198576.4(AGRN):c.3670C>T (p.Leu1224Phe) rs753681540
NM_198576.4(AGRN):c.3694C>A (p.Arg1232Ser) rs777331097
NM_198576.4(AGRN):c.3695G>A (p.Arg1232His)
NM_198576.4(AGRN):c.3697C>T (p.Arg1233Trp) rs147673996
NM_198576.4(AGRN):c.3698G>A (p.Arg1233Gln) rs746259185
NM_198576.4(AGRN):c.3726G>C (p.Gln1242His) rs1396984760
NM_198576.4(AGRN):c.3727G>A (p.Glu1243Lys)
NM_198576.4(AGRN):c.3737G>A (p.Arg1246Gln)
NM_198576.4(AGRN):c.3764C>T (p.Ala1255Val)
NM_198576.4(AGRN):c.3773C>T (p.Thr1258Met) rs141842070
NM_198576.4(AGRN):c.3803G>A (p.Gly1268Glu)
NM_198576.4(AGRN):c.3809C>T (p.Thr1270Met)
NM_198576.4(AGRN):c.3815G>A (p.Arg1272Lys)
NM_198576.4(AGRN):c.3830C>T (p.Ser1277Leu)
NM_198576.4(AGRN):c.3839C>T (p.Pro1280Leu) rs774023993
NM_198576.4(AGRN):c.3844T>C (p.Ser1282Pro) rs1557714258
NM_198576.4(AGRN):c.3859C>T (p.Arg1287Trp) rs776411371
NM_198576.4(AGRN):c.3910G>A (p.Ala1304Thr)
NM_198576.4(AGRN):c.391G>A (p.Glu131Lys)
NM_198576.4(AGRN):c.3923G>A (p.Arg1308His)
NM_198576.4(AGRN):c.3923G>T (p.Arg1308Leu)
NM_198576.4(AGRN):c.3958G>A (p.Gly1320Arg)
NM_198576.4(AGRN):c.3971C>T (p.Pro1324Leu)
NM_198576.4(AGRN):c.3974C>G (p.Ala1325Gly) rs745406424
NM_198576.4(AGRN):c.39_47dup (p.12_14PLL[3]) rs1196847979
NM_198576.4(AGRN):c.4073C>T (p.Pro1358Leu)
NM_198576.4(AGRN):c.4090G>A (p.Ala1364Thr)
NM_198576.4(AGRN):c.4183C>T (p.Arg1395Cys) rs1015396973
NM_198576.4(AGRN):c.419G>A (p.Arg140Gln)
NM_198576.4(AGRN):c.4200C>G (p.Phe1400Leu)
NM_198576.4(AGRN):c.4285C>A (p.Arg1429Ser)
NM_198576.4(AGRN):c.4339G>A (p.Val1447Met)
NM_198576.4(AGRN):c.4343C>T (p.Pro1448Leu) rs200232485
NM_198576.4(AGRN):c.4366C>T (p.Arg1456Cys)
NM_198576.4(AGRN):c.4379C>A (p.Ser1460Tyr) rs1553177633
NM_198576.4(AGRN):c.4393C>T (p.Arg1465Trp)
NM_198576.4(AGRN):c.4394G>A (p.Arg1465Gln)
NM_198576.4(AGRN):c.4406C>T (p.Ser1469Leu) rs200646795
NM_198576.4(AGRN):c.4435G>A (p.Glu1479Lys)
NM_198576.4(AGRN):c.44_45delinsGT (p.Pro15Arg) rs1553170743
NM_198576.4(AGRN):c.4503C>G (p.Asp1501Glu)
NM_198576.4(AGRN):c.4507G>A (p.Ala1503Thr)
NM_198576.4(AGRN):c.4513G>A (p.Val1505Met)
NM_198576.4(AGRN):c.4517C>T (p.Ala1506Val) rs373657385
NM_198576.4(AGRN):c.4562G>A (p.Arg1521His)
NM_198576.4(AGRN):c.4586G>A (p.Arg1529His)
NM_198576.4(AGRN):c.4612G>T (p.Ala1538Ser) rs775550619
NM_198576.4(AGRN):c.4622G>A (p.Arg1541Gln) rs760702396
NM_198576.4(AGRN):c.4651C>T (p.His1551Tyr) rs771455197
NM_198576.4(AGRN):c.4741G>A (p.Val1581Ile)
NM_198576.4(AGRN):c.4743C>T (p.Val1581=)
NM_198576.4(AGRN):c.4786C>T (p.Pro1596Ser) rs777910926
NM_198576.4(AGRN):c.4799C>T (p.Ala1600Val) rs370833536
NM_198576.4(AGRN):c.4800G>A (p.Ala1600=) rs369164916
NM_198576.4(AGRN):c.4834C>G (p.Gln1612Glu) rs1276554627
NM_198576.4(AGRN):c.4840G>A (p.Glu1614Lys) rs147259096
NM_198576.4(AGRN):c.4847C>T (p.Pro1616Leu)
NM_198576.4(AGRN):c.4856G>A (p.Arg1619His)
NM_198576.4(AGRN):c.4869C>A (p.Phe1623Leu) rs748076659
NM_198576.4(AGRN):c.4894G>A (p.Gly1632Ser)
NM_198576.4(AGRN):c.4924G>A (p.Gly1642Ser)
NM_198576.4(AGRN):c.4966C>A (p.Arg1656=) rs145111679
NM_198576.4(AGRN):c.4967G>A (p.Arg1656Gln) rs374905300
NM_198576.4(AGRN):c.4976+3C>T
NM_198576.4(AGRN):c.4976+5G>C rs1553177963
NM_198576.4(AGRN):c.500C>T (p.Thr167Met)
NM_198576.4(AGRN):c.5015G>A (p.Gly1672Asp)
NM_198576.4(AGRN):c.5038A>G (p.Asn1680Asp) rs1557719897
NM_198576.4(AGRN):c.5071G>A (p.Val1691Met) rs752964147
NM_198576.4(AGRN):c.5093G>A (p.Arg1698His) rs551658645
NM_198576.4(AGRN):c.5113G>A (p.Asp1705Asn)
NM_198576.4(AGRN):c.5142-9C>G
NM_198576.4(AGRN):c.5216G>A (p.Arg1739His)
NM_198576.4(AGRN):c.523A>G (p.Met175Val)
NM_198576.4(AGRN):c.5258C>T (p.Pro1753Leu) rs748126752
NM_198576.4(AGRN):c.5280G>A (p.Lys1760=)
NM_198576.4(AGRN):c.5299G>T (p.Gly1767Cys) rs1426112549
NM_198576.4(AGRN):c.5305C>T (p.Pro1769Ser) rs1446898012
NM_198576.4(AGRN):c.5308G>A (p.Asp1770Asn) rs141464249
NM_198576.4(AGRN):c.5327G>A (p.Arg1776His) rs757621899
NM_198576.4(AGRN):c.5332G>A (p.Ala1778Thr) rs538792693
NM_198576.4(AGRN):c.5409C>A (p.His1803Gln)
NM_198576.4(AGRN):c.5410G>A (p.Val1804Met)
NM_198576.4(AGRN):c.5422G>A (p.Val1808Met) rs1356478300
NM_198576.4(AGRN):c.5456C>T (p.Thr1819Ile)
NM_198576.4(AGRN):c.5458C>A (p.Arg1820=)
NM_198576.4(AGRN):c.5483A>G (p.Asn1828Ser) rs753473191
NM_198576.4(AGRN):c.5516A>G (p.Tyr1839Cys) rs1553178384
NM_198576.4(AGRN):c.5557G>A (p.Glu1853Lys) rs754858398
NM_198576.4(AGRN):c.5572G>A (p.Glu1858Lys) rs1060499677
NM_198576.4(AGRN):c.5626G>A (p.Glu1876Lys)
NM_198576.4(AGRN):c.5645C>T (p.Thr1882Ile) rs540580770
NM_198576.4(AGRN):c.5653G>A (p.Glu1885Lys)
NM_198576.4(AGRN):c.5705C>T (p.Thr1902Met)
NM_198576.4(AGRN):c.5722T>C (p.Trp1908Arg)
NM_198576.4(AGRN):c.5725A>C (p.Ser1909Arg) rs1553178845
NM_198576.4(AGRN):c.5738C>T (p.Thr1913Met) rs201604787
NM_198576.4(AGRN):c.5744G>A (p.Arg1915Gln) rs150134229
NM_198576.4(AGRN):c.5753A>G (p.Tyr1918Cys)
NM_198576.4(AGRN):c.5767A>G (p.Ile1923Val) rs759500435
NM_198576.4(AGRN):c.5837C>T (p.Pro1946Leu) rs771364268
NM_198576.4(AGRN):c.5861G>A (p.Arg1954Gln)
NM_198576.4(AGRN):c.5908A>G (p.Asn1970Asp) rs1473312060
NM_198576.4(AGRN):c.593_595AGA[1] (p.Lys199del) rs749209897
NM_198576.4(AGRN):c.5944G>A (p.Ala1982Thr)
NM_198576.4(AGRN):c.5948C>T (p.Thr1983Met) rs147569326
NM_198576.4(AGRN):c.5990C>T (p.Pro1997Leu) rs144091542
NM_198576.4(AGRN):c.5995C>A (p.Leu1999Met) rs868724036
NM_198576.4(AGRN):c.5998C>T (p.Pro2000Ser)
NM_198576.4(AGRN):c.5C>A (p.Ala2Asp) rs776698665
NM_198576.4(AGRN):c.6001G>A (p.Val2001Met) rs775422356
NM_198576.4(AGRN):c.6022G>A (p.Ala2008Thr)
NM_198576.4(AGRN):c.602C>T (p.Pro201Leu)
NM_198576.4(AGRN):c.6068G>T (p.Gly2023Val) rs374160610
NM_198576.4(AGRN):c.6077C>T (p.Pro2026Leu)
NM_198576.4(AGRN):c.6091G>A (p.Glu2031Lys)
NM_198576.4(AGRN):c.6100G>A (p.Val2034Ile)
NM_198576.4(AGRN):c.686G>A (p.Ser229Asn) rs1284515586
NM_198576.4(AGRN):c.698G>T (p.Arg233Leu)
NM_198576.4(AGRN):c.718G>A (p.Gly240Arg)
NM_198576.4(AGRN):c.726C>T (p.Cys242=)
NM_198576.4(AGRN):c.829C>T (p.Arg277Cys) rs1256837701
NM_198576.4(AGRN):c.836C>T (p.Ala279Val)
NM_198576.4(AGRN):c.880G>A (p.Gly294Ser)
NM_198576.4(AGRN):c.904G>A (p.Ala302Thr) rs1318084676
NM_198576.4(AGRN):c.94C>T (p.Pro32Ser)
NM_198576.4(AGRN):c.956C>T (p.Pro319Leu)
NM_198576.4(AGRN):c.980C>G (p.Pro327Arg)

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