ClinVar Miner

List of variants reported as likely benign for childhood-onset nemaline myopathy by Invitae

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 206
Download table as spreadsheet
HGVS dbSNP
NM_001100.3(ACTA1):c.130-9G>T rs1553255511
NM_001100.3(ACTA1):c.132C>T (p.Gly44=) rs146956806
NM_001100.3(ACTA1):c.24C>A (p.Thr8=) rs762659680
NM_001100.3(ACTA1):c.645G>A (p.Lys215=) rs1553255420
NM_001101362.2(KBTBD13):c.1010G>A (p.Arg337Gln) rs771413223
NM_001101362.2(KBTBD13):c.117C>T (p.Gly39=) rs367684457
NM_001101362.2(KBTBD13):c.1341T>C (p.Ala447=) rs1298809117
NM_001101362.2(KBTBD13):c.1372C>T (p.Leu458=) rs959915743
NM_001101362.2(KBTBD13):c.163G>A (p.Ala55Thr) rs551460635
NM_001101362.2(KBTBD13):c.168A>C (p.Gly56=) rs1339755233
NM_001101362.2(KBTBD13):c.189G>A (p.Gln63=) rs777062916
NM_001101362.2(KBTBD13):c.214C>T (p.Leu72=) rs550537101
NM_001101362.2(KBTBD13):c.247G>C (p.Glu83Gln) rs781438362
NM_001101362.2(KBTBD13):c.261C>T (p.Phe87=) rs770172865
NM_001101362.2(KBTBD13):c.276G>C (p.Ala92=) rs566529505
NM_001101362.2(KBTBD13):c.333C>G (p.Asp111Glu) rs188146580
NM_001101362.2(KBTBD13):c.361G>A (p.Val121Met) rs201466173
NM_001101362.2(KBTBD13):c.375C>G (p.Ala125=) rs540939027
NM_001101362.2(KBTBD13):c.411G>A (p.Ala137=) rs944865368
NM_001101362.2(KBTBD13):c.471C>T (p.Tyr157=) rs550724858
NM_001101362.2(KBTBD13):c.477C>G (p.Ala159=) rs1052175397
NM_001101362.2(KBTBD13):c.576G>C (p.Ala192=) rs1490959556
NM_001101362.2(KBTBD13):c.742C>T (p.Arg248Cys) rs200549195
NM_001101362.2(KBTBD13):c.810G>C (p.Thr270=) rs912566376
NM_001101362.2(KBTBD13):c.900C>T (p.Cys300=) rs778682102
NM_001271208.2(NEB):c.10140C>T (p.Ser3380=) rs199870629
NM_001271208.2(NEB):c.1035+7G>A rs748388746
NM_001271208.2(NEB):c.10578A>G (p.Ala3526=) rs760118695
NM_001271208.2(NEB):c.10744G>A (p.Val3582Ile) rs139798654
NM_001271208.2(NEB):c.10816C>T (p.Leu3606=) rs1188058379
NM_001271208.2(NEB):c.11025G>A (p.Thr3675=) rs199789085
NM_001271208.2(NEB):c.11067C>T (p.Asn3689=) rs200427401
NM_001271208.2(NEB):c.11077-4G>T rs878924060
NM_001271208.2(NEB):c.11199T>C (p.Ala3733=) rs756871030
NM_001271208.2(NEB):c.11709G>A (p.Arg3903=) rs570142622
NM_001271208.2(NEB):c.11850C>T (p.His3950=) rs777244382
NM_001271208.2(NEB):c.12303A>C (p.Ala4101=) rs1553882764
NM_001271208.2(NEB):c.12316G>A (p.Asp4106Asn) rs192843524
NM_001271208.2(NEB):c.12331-5T>C rs1171513278
NM_001271208.2(NEB):c.12483C>T (p.Val4161=) rs876657539
NM_001271208.2(NEB):c.12591T>C (p.Asp4197=) rs1553876898
NM_001271208.2(NEB):c.12636C>T (p.Ser4212=) rs1553876762
NM_001271208.2(NEB):c.12717C>T (p.His4239=) rs1553875334
NM_001271208.2(NEB):c.12748-10A>G rs1553872572
NM_001271208.2(NEB):c.12912G>A (p.Pro4304=) rs886038430
NM_001271208.2(NEB):c.12966C>T (p.Asp4322=) rs1334385911
NM_001271208.2(NEB):c.13047C>T (p.Asp4349=) rs886038431
NM_001271208.2(NEB):c.13218C>G (p.Thr4406=) rs1553867144
NM_001271208.2(NEB):c.13221G>A (p.Pro4407=) rs1240952464
NM_001271208.2(NEB):c.13248T>C (p.Ala4416=) rs1553866979
NM_001271208.2(NEB):c.13308C>T (p.Asn4436=) rs1553865962
NM_001271208.2(NEB):c.13362C>T (p.Ile4454=) rs1553865873
NM_001271208.2(NEB):c.13368+10_13368+11inv rs1553865853
NM_001271208.2(NEB):c.13369-9T>C rs1553865725
NM_001271208.2(NEB):c.13476+7G>A rs1553865548
NM_001271208.2(NEB):c.13480C>T (p.Leu4494=) rs1462287804
NM_001271208.2(NEB):c.1350A>G (p.Thr450=) rs774227589
NM_001271208.2(NEB):c.13533C>T (p.Ser4511=) rs1168966918
NM_001271208.2(NEB):c.13614C>T (p.Asn4538=) rs1250752053
NM_001271208.2(NEB):c.13626C>G (p.Ala4542=) rs201225445
NM_001271208.2(NEB):c.13653G>A (p.Val4551=) rs1553862349
NM_001271208.2(NEB):c.1366-7_1366-5del rs1317027054
NM_001271208.2(NEB):c.13662C>T (p.Ser4554=) rs1553862322
NM_001271208.2(NEB):c.13680G>C (p.Gln4560His) rs886038439
NM_001271208.2(NEB):c.13773C>T (p.Tyr4591=) rs1553862114
NM_001271208.2(NEB):c.13779A>G (p.Leu4593=) rs1057522591
NM_001271208.2(NEB):c.144C>T (p.Ser48=) rs373652428
NM_001271208.2(NEB):c.1569C>T (p.Asp523=) rs200758495
NM_001271208.2(NEB):c.1675-9T>C rs75118047
NM_001271208.2(NEB):c.16875C>T (p.Val5625=) rs757882235
NM_001271208.2(NEB):c.17325T>C (p.Ala5775=) rs375534633
NM_001271208.2(NEB):c.17497G>A (p.Val5833Ile) rs149881695
NM_001271208.2(NEB):c.17510A>G (p.Lys5837Arg) rs201962649
NM_001271208.2(NEB):c.17574G>A (p.Thr5858=) rs780714195
NM_001271208.2(NEB):c.177G>A (p.Gln59=) rs200990309
NM_001271208.2(NEB):c.17838G>A (p.Gln5946=) rs376199241
NM_001271208.2(NEB):c.1800C>T (p.Asp600=) rs532710372
NM_001271208.2(NEB):c.18153T>C (p.Ser6051=) rs1381905125
NM_001271208.2(NEB):c.18411G>A (p.Thr6137=) rs767659024
NM_001271208.2(NEB):c.18464A>C (p.Tyr6155Ser) rs201971223
NM_001271208.2(NEB):c.18472-4C>G rs756954250
NM_001271208.2(NEB):c.18579+6T>C rs116189169
NM_001271208.2(NEB):c.18653G>A (p.Gly6218Asp) rs34471889
NM_001271208.2(NEB):c.18694-7A>T rs373371474
NM_001271208.2(NEB):c.18831G>A (p.Thr6277=) rs368876425
NM_001271208.2(NEB):c.1896+7T>A rs1553600682
NM_001271208.2(NEB):c.18997-10T>G rs4544436
NM_001271208.2(NEB):c.19219G>A (p.Glu6407Lys) rs144539316
NM_001271208.2(NEB):c.19285_19286delinsAA (p.Ala6429Asn) rs796065338
NM_001271208.2(NEB):c.1974T>C (p.Asp658=) rs199528953
NM_001271208.2(NEB):c.19803G>A (p.Val6601=) rs374957115
NM_001271208.2(NEB):c.19836+10C>G rs148814261
NM_001271208.2(NEB):c.19944+3G>A rs115142419
NM_001271208.2(NEB):c.20019C>T (p.His6673=) rs374881368
NM_001271208.2(NEB):c.20106C>T (p.Pro6702=) rs1553717815
NM_001271208.2(NEB):c.20128G>A (p.Val6710Ile) rs199890298
NM_001271208.2(NEB):c.20158-5C>T rs376869270
NM_001271208.2(NEB):c.20199C>T (p.Ile6733=) rs1322022679
NM_001271208.2(NEB):c.20355C>T (p.Asp6785=) rs140323673
NM_001271208.2(NEB):c.20446C>G (p.Arg6816Gly) rs780644697
NM_001271208.2(NEB):c.20454G>C (p.Leu6818=) rs374662309
NM_001271208.2(NEB):c.20467-3dup rs765107380
NM_001271208.2(NEB):c.20467-4T>A rs199791504
NM_001271208.2(NEB):c.20467-4_20467-3insTA rs1553708977
NM_001271208.2(NEB):c.20467-5T>A rs762368980
NM_001271208.2(NEB):c.2049C>G (p.Gly683=) rs372609682
NM_001271208.2(NEB):c.20671C>T (p.Leu6891Phe) rs182866658
NM_001271208.2(NEB):c.20853C>T (p.Ile6951=) rs199730497
NM_001271208.2(NEB):c.20946A>G (p.Lys6982=) rs371201870
NM_001271208.2(NEB):c.20961T>C (p.Ile6987=) rs1553689592
NM_001271208.2(NEB):c.21027G>A (p.Gln7009=) rs758282270
NM_001271208.2(NEB):c.2103T>C (p.Ser701=) rs535236430
NM_001271208.2(NEB):c.21207+8T>C rs1553686509
NM_001271208.2(NEB):c.21266C>G (p.Ser7089Cys) rs774297352
NM_001271208.2(NEB):c.21300A>G (p.Gln7100=) rs1050612430
NM_001271208.2(NEB):c.21476G>A (p.Arg7159His) rs201094791
NM_001271208.2(NEB):c.21523-9A>G rs1553669362
NM_001271208.2(NEB):c.21669C>A (p.Gly7223=) rs775887037
NM_001271208.2(NEB):c.21684C>T (p.His7228=) rs372877088
NM_001271208.2(NEB):c.21778A>T (p.Thr7260Ser) rs187977960
NM_001271208.2(NEB):c.21790G>C (p.Asp7264His) rs201979610
NM_001271208.2(NEB):c.21967G>C (p.Glu7323Gln) rs768693028
NM_001271208.2(NEB):c.22227C>G (p.Asp7409Glu) rs192402741
NM_001271208.2(NEB):c.22377+7T>C rs762551492
NM_001271208.2(NEB):c.22378-10C>T rs781520817
NM_001271208.2(NEB):c.22479+7G>A rs750007608
NM_001271208.2(NEB):c.22743C>T (p.Asp7581=) rs372279388
NM_001271208.2(NEB):c.22752G>A (p.Glu7584=) rs201688876
NM_001271208.2(NEB):c.22905+9A>G rs144303545
NM_001271208.2(NEB):c.22983C>A (p.Ala7661=) rs185574478
NM_001271208.2(NEB):c.23011-6C>T rs1449487575
NM_001271208.2(NEB):c.23118C>T (p.Ser7706=) rs370873040
NM_001271208.2(NEB):c.23372T>C (p.Met7791Thr) rs201767727
NM_001271208.2(NEB):c.23582A>G (p.Asn7861Ser) rs143602832
NM_001271208.2(NEB):c.23700C>T (p.Ile7900=) rs370825760
NM_001271208.2(NEB):c.23808A>G (p.Glu7936=) rs779612457
NM_001271208.2(NEB):c.2416-6G>T rs185433570
NM_001271208.2(NEB):c.24163A>G (p.Ile8055Val) rs144634228
NM_001271208.2(NEB):c.24213T>C (p.Phe8071=) rs748169663
NM_001271208.2(NEB):c.24720C>T (p.Pro8240=) rs371270146
NM_001271208.2(NEB):c.24750G>A (p.Val8250=) rs769610035
NM_001271208.2(NEB):c.24862A>G (p.Ile8288Val) rs551649582
NM_001271208.2(NEB):c.25104G>A (p.Gln8368=) rs774663967
NM_001271208.2(NEB):c.2510A>G (p.Lys837Arg) rs189623595
NM_001271208.2(NEB):c.25140C>T (p.Asp8380=) rs201825451
NM_001271208.2(NEB):c.25365G>A (p.Ser8455=) rs1390774664
NM_001271208.2(NEB):c.25403-11_25403-10del rs1553519312
NM_001271208.2(NEB):c.25472C>T (p.Thr8491Met) rs78592085
NM_001271208.2(NEB):c.25669G>A (p.Val8557Ile) rs117861109
NM_001271208.2(NEB):c.2589C>T (p.Asp863=) rs370176216
NM_001271208.2(NEB):c.2742C>T (p.Asp914=) rs766761991
NM_001271208.2(NEB):c.295-8C>T rs767768026
NM_001271208.2(NEB):c.3024C>T (p.Asn1008=) rs1273538969
NM_001271208.2(NEB):c.322A>G (p.Thr108Ala) rs544069233
NM_001271208.2(NEB):c.3468C>T (p.Val1156=) rs373258662
NM_001271208.2(NEB):c.3519C>T (p.Asp1173=) rs376512820
NM_001271208.2(NEB):c.3593A>G (p.Asn1198Ser) rs146616621
NM_001271208.2(NEB):c.3623T>C (p.Ile1208Thr) rs201141958
NM_001271208.2(NEB):c.3918G>A (p.Lys1306=) rs368682145
NM_001271208.2(NEB):c.4060A>G (p.Lys1354Glu) rs371454282
NM_001271208.2(NEB):c.4206T>A (p.Asn1402Lys) rs201169452
NM_001271208.2(NEB):c.4251C>T (p.Asp1417=) rs550832252
NM_001271208.2(NEB):c.4326C>T (p.Ser1442=) rs1196827078
NM_001271208.2(NEB):c.4466G>A (p.Gly1489Asp) rs74482326
NM_001271208.2(NEB):c.4649A>G (p.Lys1550Arg) rs114089598
NM_001271208.2(NEB):c.4834C>T (p.Arg1612Cys) rs200545007
NM_001271208.2(NEB):c.5160C>T (p.Pro1720=) rs377168964
NM_001271208.2(NEB):c.5247C>T (p.Tyr1749=) rs777520288
NM_001271208.2(NEB):c.5301G>A (p.Pro1767=) rs150496369
NM_001271208.2(NEB):c.5420C>T (p.Ala1807Val) rs373790988
NM_001271208.2(NEB):c.5616G>A (p.Pro1872=) rs368371414
NM_001271208.2(NEB):c.5696C>T (p.Thr1899Ile) rs202234374
NM_001271208.2(NEB):c.5967C>T (p.Asn1989=) rs371151246
NM_001271208.2(NEB):c.6020T>C (p.Met2007Thr) rs199862790
NM_001271208.2(NEB):c.6043T>C (p.Leu2015=) rs748458556
NM_001271208.2(NEB):c.6088C>T (p.Leu2030Phe) rs200251444
NM_001271208.2(NEB):c.6219G>A (p.Gly2073=) rs960591817
NM_001271208.2(NEB):c.6291A>G (p.Gln2097=) rs753864118
NM_001271208.2(NEB):c.6817A>G (p.Lys2273Glu) rs199700878
NM_001271208.2(NEB):c.7123T>C (p.Leu2375=) rs373895191
NM_001271208.2(NEB):c.7126G>C (p.Val2376Leu) rs141155976
NM_001271208.2(NEB):c.7342C>T (p.Arg2448Cys) rs576076237
NM_001271208.2(NEB):c.7545C>T (p.Tyr2515=) rs776265168
NM_001271208.2(NEB):c.7737T>C (p.His2579=) rs528614990
NM_001271208.2(NEB):c.7854A>G (p.Leu2618=) rs370074798
NM_001271208.2(NEB):c.7953C>T (p.Ser2651=) rs183764569
NM_001271208.2(NEB):c.807C>A (p.Thr269=) rs1430006856
NM_001271208.2(NEB):c.8406C>T (p.Leu2802=) rs377170982
NM_001271208.2(NEB):c.8601C>T (p.Tyr2867=) rs1286220682
NM_001271208.2(NEB):c.8719G>A (p.Gly2907Ser) rs201707021
NM_001271208.2(NEB):c.9181A>T (p.Met3061Leu) rs143473183
NM_001271208.2(NEB):c.927+10G>A rs1328277826
NM_001271208.2(NEB):c.927+7T>C rs746940000
NM_001271208.2(NEB):c.9346G>A (p.Glu3116Lys) rs193042896
NM_001271208.2(NEB):c.984C>T (p.Thr328=) rs199969138
NM_006063.3(KLHL41):c.1186G>T (p.Val396Leu) rs147650614
NM_006063.3(KLHL41):c.1569T>C (p.Asp523=) rs373954289
NM_006063.3(KLHL41):c.1620G>A (p.Leu540=) rs1157611870
NM_006063.3(KLHL41):c.197T>C (p.Ile66Thr) rs116809051
NM_006063.3(KLHL41):c.291T>C (p.Asp97=) rs537913427
NM_006063.3(KLHL41):c.398G>A (p.Gly133Asp) rs147294651
NM_006063.3(KLHL41):c.840T>A (p.Gly280=) rs755378546
NM_006063.3(KLHL41):c.913C>T (p.Leu305Phe) rs149971244
NM_152263.4(TPM3):c.144G>A (p.Gln48=) rs765923858
NM_152263.4(TPM3):c.483G>A (p.Arg161=) rs150586027
NM_152263.4(TPM3):c.706-9T>A rs931328025

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