ClinVar Miner

List of variants in gene AGRN reported as pathogenic by Invitae

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Gene type:
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_198576.4(AGRN):c.3973_3979dup (p.Gln1327fs) rs1645159594 0.00002
NC_000001.10:g.(?_954503)_(992499_?)del
NM_198576.4(AGRN):c.1036_1039dup (p.Glu347fs) rs1570195582
NM_198576.4(AGRN):c.1077_1083del (p.Asp359fs) rs2100635216
NM_198576.4(AGRN):c.1105_1106del (p.Val369fs) rs2100635414
NM_198576.4(AGRN):c.1197C>A (p.Cys399Ter)
NM_198576.4(AGRN):c.1275C>G (p.Tyr425Ter) rs1239736447
NM_198576.4(AGRN):c.1668del (p.Ser557fs)
NM_198576.4(AGRN):c.1734C>A (p.Cys578Ter)
NM_198576.4(AGRN):c.2002G>T (p.Glu668Ter) rs199801106
NM_198576.4(AGRN):c.2500C>T (p.Arg834Ter) rs1645065317
NM_198576.4(AGRN):c.2645_2654del (p.Asp882fs)
NM_198576.4(AGRN):c.3003dup (p.Gly1002fs) rs763573703
NM_198576.4(AGRN):c.3229del (p.Ala1077fs)
NM_198576.4(AGRN):c.3497_3500del (p.Ala1166fs)
NM_198576.4(AGRN):c.3724C>T (p.Gln1242Ter) rs2100666336
NM_198576.4(AGRN):c.4389G>A (p.Trp1463Ter)
NM_198576.4(AGRN):c.5011C>T (p.Arg1671Ter)
NM_198576.4(AGRN):c.543dup (p.Val182fs) rs1425913203
NM_198576.4(AGRN):c.5554_5555dup (p.Glu1853fs) rs2100689699
NM_198576.4(AGRN):c.5703del (p.Thr1902fs) rs2100699601
NM_198576.4(AGRN):c.574_578dup (p.Ser194fs) rs1570190059
NM_198576.4(AGRN):c.5753_5754del (p.Tyr1918fs) rs753401796
NM_198576.4(AGRN):c.893_903del (p.Leu298fs)
NM_198576.4(AGRN):c.902_912del (p.Arg301fs) rs1570193864
NM_198576.4(AGRN):c.914_947del (p.Arg305fs) rs1557700705

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