ClinVar Miner

List of variants in gene NEB reported as likely benign for childhood-onset nemaline myopathy

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 144
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HGVS dbSNP
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.11729A>G (p.Asp3910Gly) rs35740585
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.19102-31_19102-30del rs774225336
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.2416-6G>T rs185433570
NM_001271208.2(NEB):c.2510A>G (p.Lys837Arg) rs189623595
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.3879+8G>A rs376511134
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.6507G>A (p.Lys2169=) rs267598923
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.914A>G (p.Asp305Gly) rs36105240
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.9363T>G (p.Pro3121=) rs6709886
NM_001271208.2(NEB):c.984C>T (p.Thr328=) rs199969138

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