ClinVar Miner

List of variants in gene AGRN reported as benign for Congenital myasthenic syndrome 8

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 109
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HGVS dbSNP gnomAD frequency
NM_198576.4(AGRN):c.2255-81G>A rs3128097 0.89344
NM_198576.4(AGRN):c.*156C>T rs2710872 0.87496
NM_198576.4(AGRN):c.1178-6T>C rs2799066 0.87183
NM_198576.4(AGRN):c.2537-26A>G rs3128098 0.84465
NM_198576.4(AGRN):c.3558T>C (p.Phe1186=) rs10267 0.81774
NM_198576.4(AGRN):c.3066A>G (p.Ser1022=) rs2465128 0.79176
NM_198576.4(AGRN):c.1384+238C>T rs2710875 0.79091
NM_198576.4(AGRN):c.3517-12T>C rs3128102 0.78058
NM_198576.4(AGRN):c.5651+5C>T rs9803031 0.77551
NM_198576.4(AGRN):c.1384+28G>A rs2710876 0.77416
NM_198576.4(AGRN):c.5254-190C>T rs2710887 0.76955
NM_198576.4(AGRN):c.6057C>T (p.Asp2019=) rs4275402 0.59050
NM_198576.4(AGRN):c.4161T>C (p.Thr1387=) rs9442391 0.49370
NM_198576.4(AGRN):c.4106-75_4106-74del rs140904842 0.45112
NM_198576.4(AGRN):c.4745-17C>T rs2275813 0.45060
NM_198576.4(AGRN):c.1385-15_1385-14del rs35881187 0.44144
NM_198576.4(AGRN):c.*19C>T rs3121561 0.35770
NM_198576.4(AGRN):c.45G>T (p.Pro15=) rs115173026 0.30662
NM_198576.4(AGRN):c.5358T>C (p.Gly1786=) rs17160781 0.07808
NM_198576.4(AGRN):c.4514+16G>C rs112917612 0.05987
NM_198576.4(AGRN):c.3516+10G>C rs76264143 0.05151
NM_198576.4(AGRN):c.4996G>A (p.Val1666Ile) rs17160775 0.04397
NM_198576.4(AGRN):c.804C>T (p.Ala268=) rs113789806 0.04323
NM_198576.4(AGRN):c.5070C>T (p.Phe1690=) rs17160776 0.04120
NM_198576.4(AGRN):c.2183A>T (p.Glu728Val) rs113288277 0.02922
NM_198576.4(AGRN):c.2555A>G (p.Gln852Arg) rs9697293 0.02502
NM_198576.4(AGRN):c.2254+16G>A rs114389542 0.02263
NM_198576.4(AGRN):c.4977-10A>G rs142286944 0.01820
NM_198576.4(AGRN):c.4298+17C>T rs188005130 0.01716
NM_198576.4(AGRN):c.1058A>G (p.Gln353Arg) rs150359724 0.01713
NM_198576.4(AGRN):c.4740C>T (p.Arg1580=) rs115019873 0.01570
NM_198576.4(AGRN):c.11G>C (p.Arg4Pro) rs539283387 0.01336
NM_198576.4(AGRN):c.3570C>T (p.Arg1190=) rs75361935 0.01197
NM_198576.4(AGRN):c.2025C>G (p.Gly675=) rs28484890 0.01053
NM_198576.4(AGRN):c.2406C>T (p.Gly802=) rs75774767 0.01029
NM_198576.4(AGRN):c.4452C>T (p.Thr1484=) rs75767981 0.00984
NM_198576.4(AGRN):c.729C>G (p.Gly243=) rs191270495 0.00928
NM_198576.4(AGRN):c.1528G>A (p.Gly510Ser) rs138288952 0.00834
NM_198576.4(AGRN):c.4695G>C (p.Gln1565His) rs199876002 0.00827
NM_198576.4(AGRN):c.5223C>T (p.Gly1741=) rs147681220 0.00805
NM_198576.4(AGRN):c.3972G>A (p.Pro1324=) rs201483077 0.00799
NM_198576.4(AGRN):c.4540G>A (p.Ala1514Thr) rs111818381 0.00748
NM_198576.4(AGRN):c.4893C>T (p.Asp1631=) rs139400715 0.00732
NM_198576.4(AGRN):c.5726G>C (p.Ser1909Thr) rs74685771 0.00724
NM_198576.4(AGRN):c.1660G>A (p.Val554Met) rs79016973 0.00706
NM_198576.4(AGRN):c.5598C>T (p.Thr1866=) rs17778478 0.00691
NM_198576.4(AGRN):c.3077C>A (p.Thr1026Asn) rs3813188 0.00690
NM_198576.4(AGRN):c.1603+19G>A rs115191992 0.00678
NM_198576.4(AGRN):c.67G>C (p.Val23Leu) rs201073369 0.00674
NM_198576.4(AGRN):c.3465T>C (p.Ala1155=) rs146358566 0.00648
NM_198576.4(AGRN):c.3866C>T (p.Pro1289Leu) rs139294803 0.00637
NM_198576.4(AGRN):c.5353G>A (p.Asp1785Asn) rs144245019 0.00636
NM_198576.4(AGRN):c.3404A>G (p.Gln1135Arg) rs142416636 0.00588
NM_198576.4(AGRN):c.1603+10G>A rs60074964 0.00575
NM_198576.4(AGRN):c.5352C>T (p.Phe1784=) rs112073270 0.00537
NM_198576.4(AGRN):c.5025C>T (p.Gly1675=) rs147990356 0.00536
NM_198576.4(AGRN):c.4976+18del rs368348742 0.00532
NM_198576.4(AGRN):c.5667G>A (p.Gln1889=) rs115061121 0.00532
NM_198576.4(AGRN):c.1123G>T (p.Ala375Ser) rs138031468 0.00517
NM_198576.4(AGRN):c.5896C>T (p.Leu1966=) rs115828965 0.00378
NM_198576.4(AGRN):c.579G>A (p.Ala193=) rs201301445 0.00331
NM_198576.4(AGRN):c.4285C>T (p.Arg1429Cys) rs201346452 0.00327
NM_198576.4(AGRN):c.4839C>T (p.Cys1613=) rs113020870 0.00302
NM_198576.4(AGRN):c.1993G>A (p.Glu665Lys) rs143324306 0.00297
NM_198576.4(AGRN):c.2067G>A (p.Gln689=) rs139886237 0.00282
NM_198576.4(AGRN):c.1434G>A (p.Thr478=) rs147346337 0.00281
NM_198576.4(AGRN):c.5254-5C>T rs34708466 0.00245
NM_198576.4(AGRN):c.773C>T (p.Thr258Ile) rs200607541 0.00231
NM_198576.4(AGRN):c.5466A>G (p.Ser1822=) rs149659540 0.00218
NM_198576.4(AGRN):c.464-17G>A rs202044171 0.00206
NM_198576.4(AGRN):c.3353C>A (p.Thr1118Lys) rs149159118 0.00204
NM_198576.4(AGRN):c.728-15A>C rs550290966 0.00199
NM_198576.4(AGRN):c.4139G>A (p.Arg1380His) rs183686622 0.00183
NM_198576.4(AGRN):c.3285C>G (p.Thr1095=) rs149957221 0.00179
NM_198576.4(AGRN):c.2805+7G>A rs190000918 0.00177
NM_198576.4(AGRN):c.3516+14G>A rs201858483 0.00177
NM_198576.4(AGRN):c.6074A>G (p.His2025Arg) rs377296839 0.00141
NM_198576.4(AGRN):c.4821C>T (p.Pro1607=) rs149543827 0.00134
NM_198576.4(AGRN):c.5832C>T (p.Thr1944=) rs143373928 0.00131
NM_198576.4(AGRN):c.3765G>A (p.Ala1255=) rs149490453 0.00107
NM_198576.4(AGRN):c.2508C>T (p.Ile836=) rs148864199 0.00094
NM_198576.4(AGRN):c.2013C>T (p.Ser671=) rs141603403 0.00093
NM_198576.4(AGRN):c.3819C>T (p.Ala1273=) rs142597617 0.00070
NM_198576.4(AGRN):c.2682C>T (p.Asp894=) rs118105080 0.00067
NM_198576.4(AGRN):c.4298+7G>A rs201995572 0.00066
NM_198576.4(AGRN):c.4323G>A (p.Ala1441=) rs373287346 0.00066
NM_198576.4(AGRN):c.5814C>T (p.Pro1938=) rs369308183 0.00048
NM_198576.4(AGRN):c.2537-14G>A rs201785619 0.00045
NM_198576.4(AGRN):c.5550G>A (p.Pro1850=) rs74045090 0.00038
NM_198576.4(AGRN):c.3276C>T (p.Ser1092=) rs201166586 0.00030
NM_198576.4(AGRN):c.2371+11G>A rs369036771 0.00024
NM_198576.4(AGRN):c.1815C>T (p.Ala605=) rs192391187 0.00019
NM_198576.4(AGRN):c.2681-16C>G rs199785742 0.00018
NM_198576.4(AGRN):c.3642C>T (p.Phe1214=) rs757015120 0.00011
NM_198576.4(AGRN):c.5739G>A (p.Thr1913=) rs557497898 0.00011
NM_198576.4(AGRN):c.4298+6C>T rs199977575 0.00006
NM_198576.4(AGRN):c.526C>T (p.Leu176=) rs544749044 0.00005
NM_198576.4(AGRN):c.1500T>C (p.Pro500=) rs373770321 0.00001
NM_198576.4(AGRN):c.1177+20dup rs1237123289
NM_198576.4(AGRN):c.1603+19dup rs2522687604
NM_198576.4(AGRN):c.2254+21dup rs768560390
NM_198576.4(AGRN):c.2457G>C (p.Gly819=) rs112039851
NM_198576.4(AGRN):c.3039C>T (p.His1013=) rs549843700
NM_198576.4(AGRN):c.3264G>C (p.Leu1088Phe) rs150132566
NM_198576.4(AGRN):c.4298+21del rs759046825
NM_198576.4(AGRN):c.4298+6_4298+88del rs1553177542
NM_198576.4(AGRN):c.4976+10dup rs747502112
NM_198576.4(AGRN):c.5253+18C>G rs189784653
NM_198576.4(AGRN):c.5652-201G>C rs2710871

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