ClinVar Miner

List of variants reported as likely benign for Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 301
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HGVS dbSNP gnomAD frequency
NM_145207.3(AFG2A):c.1785G>T (p.Val595=) rs62324113 0.00855
NM_145207.3(AFG2A):c.896G>T (p.Gly299Val) rs75871497 0.00181
NM_145207.3(AFG2A):c.766A>G (p.Ile256Val) rs143384152 0.00115
NM_145207.3(AFG2A):c.1622C>G (p.Pro541Arg) rs143957561 0.00049
NM_145207.3(AFG2A):c.1737C>T (p.Ile579=) rs145527745 0.00045
NM_145207.3(AFG2A):c.637G>A (p.Asp213Asn) rs139066705 0.00045
NM_145207.3(AFG2A):c.830A>T (p.Asp277Val) rs150370442 0.00041
NM_145207.3(AFG2A):c.585G>A (p.Val195=) rs372782312 0.00033
NM_145207.3(AFG2A):c.2219T>C (p.Leu740Ser) rs199626476 0.00026
NM_145207.3(AFG2A):c.447-15C>T rs371733991 0.00019
NM_145207.3(AFG2A):c.1278-10T>C rs376606287 0.00016
NM_145207.3(AFG2A):c.2055T>C (p.Ser685=) rs759889755 0.00016
NM_145207.3(AFG2A):c.164-19A>G rs200145661 0.00015
NM_145207.3(AFG2A):c.1632C>T (p.Leu544=) rs776611921 0.00011
NM_145207.3(AFG2A):c.446+18G>A rs372047960 0.00011
NM_145207.3(AFG2A):c.2636G>A (p.Arg879His) rs368041677 0.00010
NM_145207.3(AFG2A):c.105T>C (p.Ala35=) rs200651766 0.00009
NM_145207.3(AFG2A):c.163+9T>G rs556284598 0.00009
NM_145207.3(AFG2A):c.2202T>C (p.Val734=) rs373009847 0.00009
NM_145207.3(AFG2A):c.2213+18G>A rs554842855 0.00009
NM_145207.3(AFG2A):c.2080-4G>T rs372642536 0.00007
NM_145207.3(AFG2A):c.2340+11A>T rs747081613 0.00007
NM_145207.3(AFG2A):c.753T>G (p.Thr251=) rs201154687 0.00007
NM_145207.3(AFG2A):c.1365G>A (p.Leu455=) rs767423681 0.00006
NM_145207.3(AFG2A):c.2661G>A (p.Lys887=) rs142236589 0.00006
NM_145207.3(AFG2A):c.505+17A>T rs112426224 0.00005
NM_145207.3(AFG2A):c.1338C>T (p.His446=) rs773064579 0.00004
NM_145207.3(AFG2A):c.151T>C (p.Leu51=) rs778048921 0.00004
NM_145207.3(AFG2A):c.164-14C>A rs368972231 0.00004
NM_145207.3(AFG2A):c.1887A>C (p.Ile629=) rs575593378 0.00004
NM_145207.3(AFG2A):c.2010T>C (p.Pro670=) rs781532837 0.00004
NM_145207.3(AFG2A):c.2103T>C (p.Tyr701=) rs375587472 0.00004
NM_145207.3(AFG2A):c.2487C>T (p.Asp829=) rs367589752 0.00004
NM_145207.3(AFG2A):c.426G>A (p.Glu142=) rs779704127 0.00004
NM_145207.3(AFG2A):c.615G>T (p.Gly205=) rs559844288 0.00004
NM_145207.3(AFG2A):c.71C>G (p.Ala24Gly) rs139156024 0.00004
NM_145207.3(AFG2A):c.1209C>T (p.Ile403=) rs751925881 0.00003
NM_145207.3(AFG2A):c.1459-15A>G rs779965060 0.00003
NM_145207.3(AFG2A):c.1677C>T (p.Tyr559=) rs139834687 0.00003
NM_145207.3(AFG2A):c.2238C>T (p.Ala746=) rs540516126 0.00003
NM_145207.3(AFG2A):c.289-8_289-7insAACATTTATTTC rs1463673475 0.00003
NM_145207.3(AFG2A):c.289-9G>C rs756829452 0.00003
NM_145207.3(AFG2A):c.560C>T (p.Pro187Leu) rs746128411 0.00003
NM_145207.3(AFG2A):c.630T>A (p.Ser210=) rs763496930 0.00003
NM_145207.3(AFG2A):c.1363C>T (p.Leu455=) rs759424631 0.00002
NM_145207.3(AFG2A):c.1458+13C>T rs376392511 0.00002
NM_145207.3(AFG2A):c.1459-4T>C rs1245072810 0.00002
NM_145207.3(AFG2A):c.1587G>T (p.Arg529=) rs140187138 0.00002
NM_145207.3(AFG2A):c.1956T>C (p.Ser652=) rs774731874 0.00002
NM_145207.3(AFG2A):c.2079+14T>C rs749909014 0.00002
NM_145207.3(AFG2A):c.2213+7A>C rs748993498 0.00002
NM_145207.3(AFG2A):c.2340+16T>C rs756504970 0.00002
NM_145207.3(AFG2A):c.276C>T (p.Asn92=) rs775386233 0.00002
NM_145207.3(AFG2A):c.288+13T>C rs765394285 0.00002
NM_145207.3(AFG2A):c.450C>T (p.Asp150=) rs777620671 0.00002
NM_145207.3(AFG2A):c.492C>A (p.Ile164=) rs991945925 0.00002
NM_145207.3(AFG2A):c.987A>G (p.Thr329=) rs759187216 0.00002
NM_145207.3(AFG2A):c.102T>A (p.Ser34=) rs1728172201 0.00001
NM_145207.3(AFG2A):c.1113G>A (p.Leu371=) rs772031133 0.00001
NM_145207.3(AFG2A):c.1171T>C (p.Leu391=) rs556122722 0.00001
NM_145207.3(AFG2A):c.1277+8C>T rs185685520 0.00001
NM_145207.3(AFG2A):c.1277+9A>G rs958114780 0.00001
NM_145207.3(AFG2A):c.1380G>A (p.Pro460=) rs755999016 0.00001
NM_145207.3(AFG2A):c.1401T>C (p.Asn467=) rs962940409 0.00001
NM_145207.3(AFG2A):c.1419T>G (p.Val473=) rs772466974 0.00001
NM_145207.3(AFG2A):c.1464A>C (p.Val488=) rs781715865 0.00001
NM_145207.3(AFG2A):c.1509T>C (p.His503=) rs771656456 0.00001
NM_145207.3(AFG2A):c.154T>C (p.Leu52=) rs753918958 0.00001
NM_145207.3(AFG2A):c.164-4A>G rs752411823 0.00001
NM_145207.3(AFG2A):c.1715-13C>T rs1205553565 0.00001
NM_145207.3(AFG2A):c.1715-4A>G rs376529707 0.00001
NM_145207.3(AFG2A):c.1743A>G (p.Lys581=) rs1317922473 0.00001
NM_145207.3(AFG2A):c.1782G>A (p.Leu594=) rs991756175 0.00001
NM_145207.3(AFG2A):c.1833C>T (p.Pro611=) rs1391843100 0.00001
NM_145207.3(AFG2A):c.1870-9A>G rs1560893566 0.00001
NM_145207.3(AFG2A):c.2016C>T (p.Cys672=) rs769903844 0.00001
NM_145207.3(AFG2A):c.2037G>A (p.Lys679=) rs1729150278 0.00001
NM_145207.3(AFG2A):c.2079+13A>G rs764857430 0.00001
NM_145207.3(AFG2A):c.2134-16G>T rs760525144 0.00001
NM_145207.3(AFG2A):c.2160G>A (p.Ala720=) rs780763378 0.00001
NM_145207.3(AFG2A):c.2265A>G (p.Thr755=) rs776495677 0.00001
NM_145207.3(AFG2A):c.2391G>A (p.Pro797=) rs754131032 0.00001
NM_145207.3(AFG2A):c.2469A>G (p.Glu823=) rs749035861 0.00001
NM_145207.3(AFG2A):c.2505+12C>T rs754609168 0.00001
NM_145207.3(AFG2A):c.288+9C>G rs1200873596 0.00001
NM_145207.3(AFG2A):c.28T>C (p.Leu10=) rs977538802 0.00001
NM_145207.3(AFG2A):c.333C>T (p.Val111=) rs765332216 0.00001
NM_145207.3(AFG2A):c.384C>T (p.Ala128=) rs1351835391 0.00001
NM_145207.3(AFG2A):c.446+8T>C rs773252878 0.00001
NM_145207.3(AFG2A):c.506-5T>C rs762204672 0.00001
NM_145207.3(AFG2A):c.506-7T>C rs769155617 0.00001
NM_145207.3(AFG2A):c.561G>A (p.Pro187=) rs545967731 0.00001
NM_145207.3(AFG2A):c.577T>C (p.Leu193=) rs144407566 0.00001
NM_145207.3(AFG2A):c.61C>T (p.Pro21Ser) rs199517594 0.00001
NM_145207.3(AFG2A):c.798T>C (p.Asp266=) rs369292228 0.00001
NM_145207.3(AFG2A):c.825T>G (p.Pro275=) rs533190093 0.00001
NM_145207.3(AFG2A):c.852G>A (p.Glu284=) rs1220311692 0.00001
NM_145207.3(AFG2A):c.930A>G (p.Leu310=) rs141742510 0.00001
NM_145207.3(AFG2A):c.936C>T (p.Phe312=) rs1304551030 0.00001
NM_145207.3(AFG2A):c.951G>A (p.Lys317=) rs1228490378 0.00001
NM_145207.3(AFG2A):c.996C>T (p.Val332=) rs933489994 0.00001
NM_145207.3(AFG2A):c.1038C>T (p.Asn346=)
NM_145207.3(AFG2A):c.1053T>A (p.Thr351=)
NM_145207.3(AFG2A):c.1084C>T (p.Leu362=) rs2125739040
NM_145207.3(AFG2A):c.1086G>A (p.Leu362=)
NM_145207.3(AFG2A):c.1101A>G (p.Glu367=)
NM_145207.3(AFG2A):c.1147+15G>C rs1728977580
NM_145207.3(AFG2A):c.1147+16T>C
NM_145207.3(AFG2A):c.1147+19A>T
NM_145207.3(AFG2A):c.1148-12T>C
NM_145207.3(AFG2A):c.1158C>T (p.Ala386=) rs746730397
NM_145207.3(AFG2A):c.1176T>C (p.Leu392=)
NM_145207.3(AFG2A):c.117C>T (p.Phe39=)
NM_145207.3(AFG2A):c.1191T>A (p.Gly397=) rs1578530704
NM_145207.3(AFG2A):c.120G>C (p.Ala40=) rs767647497
NM_145207.3(AFG2A):c.120G>T (p.Ala40=) rs767647497
NM_145207.3(AFG2A):c.1227T>C (p.Asn409=) rs1043307826
NM_145207.3(AFG2A):c.1277+13T>C
NM_145207.3(AFG2A):c.1277+20_1277+24del rs759360080
NM_145207.3(AFG2A):c.1278-11A>G
NM_145207.3(AFG2A):c.1278-11_1278-8del
NM_145207.3(AFG2A):c.1278-15T>C rs1729065214
NM_145207.3(AFG2A):c.1278-18G>A
NM_145207.3(AFG2A):c.1278-20A>G
NM_145207.3(AFG2A):c.1278-7G>A
NM_145207.3(AFG2A):c.1290G>A (p.Glu430=) rs1729067022
NM_145207.3(AFG2A):c.12G>A (p.Lys4=)
NM_145207.3(AFG2A):c.1332A>G (p.Leu444=)
NM_145207.3(AFG2A):c.1334+6_1334+9del rs752274594
NM_145207.3(AFG2A):c.1335-7T>C
NM_145207.3(AFG2A):c.1359T>C (p.Asp453=) rs2125746875
NM_145207.3(AFG2A):c.135T>C (p.Thr45=)
NM_145207.3(AFG2A):c.1428A>G (p.Ser476=) rs2125747126
NM_145207.3(AFG2A):c.1438C>T (p.Leu480=) rs1294033037
NM_145207.3(AFG2A):c.1458+12A>G
NM_145207.3(AFG2A):c.1458+14T>G
NM_145207.3(AFG2A):c.1459-15A>C
NM_145207.3(AFG2A):c.1459-15A>T
NM_145207.3(AFG2A):c.1459-16del
NM_145207.3(AFG2A):c.1459-9T>C
NM_145207.3(AFG2A):c.1473A>G (p.Gly491=) rs1578556696
NM_145207.3(AFG2A):c.1473A>T (p.Gly491=) rs1578556696
NM_145207.3(AFG2A):c.1479G>A (p.Val493=)
NM_145207.3(AFG2A):c.1488T>G (p.Leu496=) rs2125773391
NM_145207.3(AFG2A):c.1491G>A (p.Gly497=) rs1730075362
NM_145207.3(AFG2A):c.1494C>G (p.Ala498=) rs2125773406
NM_145207.3(AFG2A):c.1533A>G (p.Arg511=)
NM_145207.3(AFG2A):c.1542A>T (p.Arg514=) rs750696955
NM_145207.3(AFG2A):c.1545T>C (p.Phe515=)
NM_145207.3(AFG2A):c.156A>G (p.Leu52=)
NM_145207.3(AFG2A):c.1572C>T (p.Pro524=)
NM_145207.3(AFG2A):c.1590A>G (p.Leu530=)
NM_145207.3(AFG2A):c.15G>A (p.Lys5=)
NM_145207.3(AFG2A):c.1620A>C (p.Val540=)
NM_145207.3(AFG2A):c.1623C>G (p.Pro541=)
NM_145207.3(AFG2A):c.163+15G>T
NM_145207.3(AFG2A):c.163+16del
NM_145207.3(AFG2A):c.163+7A>G
NM_145207.3(AFG2A):c.164-11T>C
NM_145207.3(AFG2A):c.164-15T>C
NM_145207.3(AFG2A):c.164-5C>T
NM_145207.3(AFG2A):c.1647G>T (p.Leu549=) rs2125773894
NM_145207.3(AFG2A):c.165A>G (p.Val55=) rs2125722744
NM_145207.3(AFG2A):c.1662T>C (p.Asn554=)
NM_145207.3(AFG2A):c.1671T>C (p.His557=) rs2125773982
NM_145207.3(AFG2A):c.1686A>T (p.Ala562=)
NM_145207.3(AFG2A):c.1699T>C (p.Leu567=) rs2125774045
NM_145207.3(AFG2A):c.1714+10G>A rs1578557531
NM_145207.3(AFG2A):c.1714+14G>A
NM_145207.3(AFG2A):c.1714+15C>G
NM_145207.3(AFG2A):c.1714+16T>C
NM_145207.3(AFG2A):c.1714+18T>C
NM_145207.3(AFG2A):c.1714+20G>T
NM_145207.3(AFG2A):c.1714+7G>T
NM_145207.3(AFG2A):c.1715-5T>C
NM_145207.3(AFG2A):c.1715-8C>T rs1578611849
NM_145207.3(AFG2A):c.1715-9T>C rs1578611841
NM_145207.3(AFG2A):c.1737C>A (p.Ile579=)
NM_145207.3(AFG2A):c.1746A>G (p.Lys582=)
NM_145207.3(AFG2A):c.1776T>C (p.Ala592=)
NM_145207.3(AFG2A):c.1788G>A (p.Lys596=) rs760721504
NM_145207.3(AFG2A):c.1809G>A (p.Leu603=) rs1725527352
NM_145207.3(AFG2A):c.1824T>C (p.Asp608=)
NM_145207.3(AFG2A):c.1848A>G (p.Glu616=)
NM_145207.3(AFG2A):c.1869+18C>T
NM_145207.3(AFG2A):c.1870-13T>C
NM_145207.3(AFG2A):c.1870-9A>C rs1560893566
NM_145207.3(AFG2A):c.1875C>T (p.Ser625=)
NM_145207.3(AFG2A):c.1905C>A (p.Ile635=)
NM_145207.3(AFG2A):c.1941A>G (p.Leu647=) rs1578710537
NM_145207.3(AFG2A):c.1992T>C (p.Val664=) rs1276913762
NM_145207.3(AFG2A):c.201T>A (p.Leu67=) rs1290077817
NM_145207.3(AFG2A):c.2079+8G>A
NM_145207.3(AFG2A):c.2106T>C (p.Val702=)
NM_145207.3(AFG2A):c.2115T>G (p.Ser705=)
NM_145207.3(AFG2A):c.2134-12T>C rs990206963
NM_145207.3(AFG2A):c.2134-20T>C
NM_145207.3(AFG2A):c.2134-26_2134-8del
NM_145207.3(AFG2A):c.2140C>A (p.Arg714=)
NM_145207.3(AFG2A):c.2154A>G (p.Ala718=)
NM_145207.3(AFG2A):c.2157G>A (p.Val719=)
NM_145207.3(AFG2A):c.2166C>G (p.Ser722=)
NM_145207.3(AFG2A):c.2172T>C (p.Ile724=) rs1456668683
NM_145207.3(AFG2A):c.219C>T (p.Asn73=)
NM_145207.3(AFG2A):c.2213+16T>C
NM_145207.3(AFG2A):c.2213+8G>C
NM_145207.3(AFG2A):c.2214-11T>G rs746318667
NM_145207.3(AFG2A):c.2214-14A>G rs2126010299
NM_145207.3(AFG2A):c.2214-17C>T
NM_145207.3(AFG2A):c.2229G>A (p.Gly743=) rs1578811280
NM_145207.3(AFG2A):c.2238C>A (p.Ala746=)
NM_145207.3(AFG2A):c.2298G>A (p.Val766=)
NM_145207.3(AFG2A):c.2298G>C (p.Val766=)
NM_145207.3(AFG2A):c.2340+13G>C
NM_145207.3(AFG2A):c.2340+13del
NM_145207.3(AFG2A):c.2340+9G>A rs2126010497
NM_145207.3(AFG2A):c.2341-14C>T rs774589448
NM_145207.3(AFG2A):c.2341-15T>C
NM_145207.3(AFG2A):c.2341-17C>T
NM_145207.3(AFG2A):c.2343T>G (p.Ala781=) rs1579053359
NM_145207.3(AFG2A):c.2350C>A (p.Arg784=)
NM_145207.3(AFG2A):c.2361A>G (p.Arg787=)
NM_145207.3(AFG2A):c.2379T>C (p.Tyr793=)
NM_145207.3(AFG2A):c.2388A>G (p.Leu796=)
NM_145207.3(AFG2A):c.2409G>A (p.Arg803=)
NM_145207.3(AFG2A):c.2433C>T (p.His811=)
NM_145207.3(AFG2A):c.243T>C (p.Cys81=) rs2125722998
NM_145207.3(AFG2A):c.2457T>A (p.Val819=)
NM_145207.3(AFG2A):c.2460C>T (p.Asp820=)
NM_145207.3(AFG2A):c.2466T>C (p.Asp822=) rs777716801
NM_145207.3(AFG2A):c.2484C>A (p.Thr828=) rs76934283
NM_145207.3(AFG2A):c.2505+13C>T
NM_145207.3(AFG2A):c.2505+7T>C rs1741473279
NM_145207.3(AFG2A):c.2505+8dup
NM_145207.3(AFG2A):c.2506-10A>T
NM_145207.3(AFG2A):c.2506-11T>A
NM_145207.3(AFG2A):c.2506-16T>C
NM_145207.3(AFG2A):c.2506-20C>G
NM_145207.3(AFG2A):c.2514T>C (p.Ala838=)
NM_145207.3(AFG2A):c.2529A>C (p.Ala843=)
NM_145207.3(AFG2A):c.2536C>T (p.Leu846=) rs562168223
NM_145207.3(AFG2A):c.2565T>C (p.Asn855=) rs546471546
NM_145207.3(AFG2A):c.2568C>T (p.Leu856=) rs372052183
NM_145207.3(AFG2A):c.2580A>G (p.Arg860=)
NM_145207.3(AFG2A):c.2629T>C (p.Leu877=) rs753879696
NM_145207.3(AFG2A):c.2637T>G (p.Arg879=) rs2126180444
NM_145207.3(AFG2A):c.2643T>C (p.Tyr881=) rs2126180453
NM_145207.3(AFG2A):c.2646A>G (p.Glu882=)
NM_145207.3(AFG2A):c.2652T>C (p.Tyr884=)
NM_145207.3(AFG2A):c.2667G>A (p.Gly889=)
NM_145207.3(AFG2A):c.2676A>G (p.Thr892=)
NM_145207.3(AFG2A):c.288+20C>T
NM_145207.3(AFG2A):c.289-11C>T rs1171064199
NM_145207.3(AFG2A):c.289-13C>A rs1560786244
NM_145207.3(AFG2A):c.289-14C>T
NM_145207.3(AFG2A):c.289-15_289-14insATTTCTAATTTTCTAA rs1366642289
NM_145207.3(AFG2A):c.324A>C (p.Gly108=)
NM_145207.3(AFG2A):c.339G>C (p.Leu113=)
NM_145207.3(AFG2A):c.372G>A (p.Arg124=) rs1728586234
NM_145207.3(AFG2A):c.39C>T (p.Ser13=)
NM_145207.3(AFG2A):c.446+16T>G
NM_145207.3(AFG2A):c.447-11T>C
NM_145207.3(AFG2A):c.447-15_447-13del
NM_145207.3(AFG2A):c.447-16T>C
NM_145207.3(AFG2A):c.447-20C>G
NM_145207.3(AFG2A):c.447-9C>T
NM_145207.3(AFG2A):c.456T>C (p.Asp152=)
NM_145207.3(AFG2A):c.492C>T (p.Ile164=) rs991945925
NM_145207.3(AFG2A):c.505+16T>A
NM_145207.3(AFG2A):c.505+20T>C
NM_145207.3(AFG2A):c.505+7_505+8del
NM_145207.3(AFG2A):c.506-11C>A
NM_145207.3(AFG2A):c.506-13T>C
NM_145207.3(AFG2A):c.506-9G>A rs2125737189
NM_145207.3(AFG2A):c.522A>G (p.Leu174=) rs1728911901
NM_145207.3(AFG2A):c.546A>G (p.Thr182=)
NM_145207.3(AFG2A):c.546A>T (p.Thr182=)
NM_145207.3(AFG2A):c.54G>C (p.Ser18=) rs2125713813
NM_145207.3(AFG2A):c.555A>G (p.Gly185=)
NM_145207.3(AFG2A):c.555A>T (p.Gly185=)
NM_145207.3(AFG2A):c.57C>T (p.Ser19=)
NM_145207.3(AFG2A):c.591G>A (p.Gly197=)
NM_145207.3(AFG2A):c.607T>C (p.Leu203=) rs1728921873
NM_145207.3(AFG2A):c.63C>T (p.Pro21=)
NM_145207.3(AFG2A):c.663G>A (p.Gln221=) rs2125737690
NM_145207.3(AFG2A):c.690G>A (p.Glu230=)
NM_145207.3(AFG2A):c.691T>C (p.Leu231=) rs2125737780
NM_145207.3(AFG2A):c.702G>A (p.Gln234=)
NM_145207.3(AFG2A):c.729C>T (p.Thr243=)
NM_145207.3(AFG2A):c.738A>C (p.Pro246=)
NM_145207.3(AFG2A):c.74C>G (p.Ser25Cys)
NM_145207.3(AFG2A):c.75C>T (p.Ser25=) rs1348157064
NM_145207.3(AFG2A):c.825T>C (p.Pro275=)
NM_145207.3(AFG2A):c.847C>T (p.Leu283=)
NM_145207.3(AFG2A):c.912T>C (p.Thr304=)
NM_145207.3(AFG2A):c.918A>G (p.Glu306=)
NM_145207.3(AFG2A):c.933G>A (p.Lys311=)
NM_145207.3(AFG2A):c.93G>A (p.Arg31=) rs1728170597
NM_145207.3(AFG2A):c.948A>G (p.Ala316=) rs1728954907
NM_145207.3(AFG2A):c.966T>C (p.Thr322=)
NM_145207.3(AFG2A):c.972T>C (p.Tyr324=)

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