ClinVar Miner

List of variants studied for nemaline myopathy 2 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 264
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.5971C>T (p.His1991Tyr) rs75807392 0.04908
NM_001164508.2(NEB):c.18113A>G (p.Asn6038Ser) rs16830236 0.01192
NM_001164508.2(NEB):c.23495C>T (p.Thr7832Ile) rs34368668 0.01129
NM_001164508.2(NEB):c.16669A>G (p.Ile5557Val) rs113439353 0.00852
NM_001164508.2(NEB):c.18693G>C (p.Ala6231=) rs141338915 0.00448
NM_001164508.2(NEB):c.12667G>A (p.Ala4223Thr) rs12998234 0.00437
NM_001164508.2(NEB):c.17747A>G (p.Lys5916Arg) rs73967567 0.00393
NM_001164508.2(NEB):c.19056G>T (p.Thr6352=) rs115631125 0.00354
NM_001164508.2(NEB):c.1675-9T>G rs75118047 0.00324
NM_001164508.2(NEB):c.19285G>A (p.Ala6429Thr) rs149752325 0.00181
NM_001164508.2(NEB):c.19286C>A (p.Ala6429Asp) rs139636644 0.00178
NM_001164508.2(NEB):c.914A>G (p.Asp305Gly) rs36105240 0.00148
NM_001164508.2(NEB):c.3986A>C (p.Asp1329Ala) rs115986826 0.00095
NM_001164508.2(NEB):c.3987+11A>T rs116903097 0.00092
NM_001164508.2(NEB):c.9052G>A (p.Asp3018Asn) rs192098032 0.00081
NM_001164508.2(NEB):c.18862G>A (p.Val6288Ile) rs201886728 0.00066
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_001164508.2(NEB):c.20956G>C (p.Asp6986His) rs150874422 0.00055
NM_001164508.2(NEB):c.20654C>T (p.Ala6885Val) rs202209668 0.00054
NM_001164508.2(NEB):c.21994G>A (p.Val7332Ile) rs189609282 0.00037
NM_001164508.2(NEB):c.9139C>A (p.His3047Asn) rs147168910 0.00022
NM_001164508.2(NEB):c.21270G>T (p.Pro7090=) rs368887173 0.00016
NM_001164508.2(NEB):c.7309C>T (p.Arg2437Trp) rs375164626 0.00016
NM_001164508.2(NEB):c.10583G>A (p.Arg3528His) rs199584268 0.00015
NM_001164508.2(NEB):c.1544A>G (p.Gln515Arg) rs368150737 0.00014
NM_001164508.2(NEB):c.10802A>G (p.His3601Arg) rs371568550 0.00013
NM_001164508.2(NEB):c.1550A>G (p.Asn517Ser) rs199710125 0.00013
NM_001164508.2(NEB):c.19966C>T (p.Arg6656Cys) rs527250558 0.00011
NM_001164508.2(NEB):c.6481C>T (p.Arg2161Cys) rs201758329 0.00011
NM_001164508.2(NEB):c.10181T>C (p.Ile3394Thr) rs376182104 0.00010
NM_001164508.2(NEB):c.17462G>A (p.Arg5821His) rs773239926 0.00010
NM_001164508.2(NEB):c.18859C>T (p.Arg6287Cys) rs374606967 0.00010
NM_001164508.2(NEB):c.4904C>T (p.Thr1635Ile) rs199662534 0.00010
NM_001164508.2(NEB):c.5495T>C (p.Ile1832Thr) rs751494785 0.00010
NM_001164508.2(NEB):c.11077C>T (p.Arg3693Cys) rs539139958 0.00009
NM_001164508.2(NEB):c.22590+2T>C rs200449517 0.00009
NM_001164508.2(NEB):c.24114+1G>A rs755239192 0.00009
NM_001164508.2(NEB):c.19732-8C>T rs137934821 0.00007
NM_001164508.2(NEB):c.20245C>A (p.Gln6749Lys) rs772854423 0.00007
NM_001164508.2(NEB):c.11717G>A (p.Arg3906His) rs556930902 0.00006
NM_001164508.2(NEB):c.23742+2T>C rs545937015 0.00006
NM_001164508.2(NEB):c.5939T>C (p.Leu1980Ser) rs375412223 0.00006
NM_001164508.2(NEB):c.1675-4C>G rs369915027 0.00005
NM_001164508.2(NEB):c.7861G>A (p.Asp2621Asn) rs781745506 0.00005
NM_001164508.2(NEB):c.20132G>A (p.Arg6711Gln) rs781250495 0.00004
NM_001164508.2(NEB):c.21417+3A>G rs148950085 0.00004
NM_001164508.2(NEB):c.24650G>A (p.Arg8217His) rs201291446 0.00004
NM_001164508.2(NEB):c.3571G>A (p.Val1191Ile) rs767493706 0.00004
NM_001164508.2(NEB):c.5452-4A>G rs376623225 0.00004
NM_001164508.2(NEB):c.8582T>C (p.Leu2861Ser) rs529735446 0.00004
NM_001164508.2(NEB):c.9619-2A>G rs375145370 0.00004
NM_001164508.2(NEB):c.11234G>T (p.Arg3745Leu) rs765379397 0.00003
NM_001164508.2(NEB):c.12018+1G>A rs762278237 0.00003
NM_001164508.2(NEB):c.18472-1G>C rs1203257517 0.00003
NM_001164508.2(NEB):c.19724G>A (p.Arg6575His) rs185999504 0.00003
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter) rs769345284 0.00003
NM_001164508.2(NEB):c.25172G>A (p.Arg8391Gln) rs749034995 0.00003
NM_001164508.2(NEB):c.19861C>T (p.His6621Tyr) rs1559832482 0.00002
NM_001164508.2(NEB):c.22441A>G (p.Ile7481Val) rs374581669 0.00002
NM_001164508.2(NEB):c.24402C>G (p.Tyr8134Ter) rs758277406 0.00002
NM_001164508.2(NEB):c.4666C>T (p.Pro1556Ser) rs756692621 0.00002
NM_001164508.2(NEB):c.9046C>T (p.Arg3016Ter) rs1057517977 0.00002
NM_001164508.2(NEB):c.9853C>T (p.Arg3285Cys) rs370572955 0.00002
NM_001164508.2(NEB):c.9875T>C (p.Ile3292Thr) rs186634689 0.00002
NM_001271208.2(NEB):c.17276del (p.Gln5759fs) rs1346554177 0.00002
NM_001164508.2(NEB):c.1152+1G>A rs398124167 0.00001
NM_001164508.2(NEB):c.1365+2T>C rs770797137 0.00001
NM_001164508.2(NEB):c.1470+1G>A rs1220787593 0.00001
NM_001164508.2(NEB):c.1613A>G (p.His538Arg) rs925195870 0.00001
NM_001164508.2(NEB):c.17118+1G>A rs747946275 0.00001
NM_001164508.2(NEB):c.17197C>T (p.Arg5733Cys) rs1000108046 0.00001
NM_001164508.2(NEB):c.18676C>T (p.Gln6226Ter) rs1475648900 0.00001
NM_001164508.2(NEB):c.18891+1G>A rs1443738549 0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=) rs201553266 0.00001
NM_001164508.2(NEB):c.20033G>A (p.Arg6678His) rs1487589344 0.00001
NM_001164508.2(NEB):c.21793C>T (p.Arg7265Ter) rs750900690 0.00001
NM_001164508.2(NEB):c.21840T>C (p.Asp7280=) rs770721746 0.00001
NM_001164508.2(NEB):c.21970A>C (p.Lys7324Gln) rs756646859 0.00001
NM_001164508.2(NEB):c.22117C>T (p.Arg7373Trp) rs779004876 0.00001
NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter) rs748922882 0.00001
NM_001164508.2(NEB):c.22375-1G>A rs949331605 0.00001
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter) rs760935667 0.00001
NM_001164508.2(NEB):c.23016+1G>A rs111833078 0.00001
NM_001164508.2(NEB):c.23451+1G>T rs1011425121 0.00001
NM_001164508.2(NEB):c.23986G>A (p.Glu7996Lys) rs1202510810 0.00001
NM_001164508.2(NEB):c.2415+2T>C rs1057517399 0.00001
NM_001164508.2(NEB):c.24353_24356dup (p.Met8119fs) rs1257495033 0.00001
NM_001164508.2(NEB):c.24395_24398dup (p.Leu8133fs) rs762133567 0.00001
NM_001164508.2(NEB):c.25183C>T (p.Arg8395Ter) rs747179265 0.00001
NM_001164508.2(NEB):c.2784del (p.Asp929fs) rs786204430 0.00001
NM_001164508.2(NEB):c.294+1G>A rs759956258 0.00001
NM_001164508.2(NEB):c.295-2A>G rs1428300892 0.00001
NM_001164508.2(NEB):c.37-1G>A rs1428597732 0.00001
NM_001164508.2(NEB):c.6076-1G>T rs1553469502 0.00001
NM_001164508.2(NEB):c.6262G>A (p.Val2088Ile) rs747729019 0.00001
NM_001164508.2(NEB):c.7228-1G>A rs1057516996 0.00001
NM_001164508.2(NEB):c.78+1G>A rs778593702 0.00001
NM_001164508.2(NEB):c.8381A>T (p.Tyr2794Phe) rs750548574 0.00001
NM_001164508.2(NEB):c.10545_10552del (p.Asp3516fs)
NM_001164508.2(NEB):c.10612C>T (p.Arg3538Ter) rs779909544
NM_001164508.2(NEB):c.10916G>A (p.Trp3639Ter)
NM_001164508.2(NEB):c.11021dup (p.Thr3675fs)
NM_001164508.2(NEB):c.11312G>T (p.Arg3771Leu) rs374486286
NM_001164508.2(NEB):c.11474_11475dup (p.Leu3826fs)
NM_001164508.2(NEB):c.11584_11587dup (p.Asp3863delinsValTer) rs2153991555
NM_001164508.2(NEB):c.11601+2T>C
NM_001164508.2(NEB):c.11948A>G (p.Lys3983Arg)
NM_001164508.2(NEB):c.1470+1G>C rs1220787593
NM_001164508.2(NEB):c.14827-14CT[2] rs536426422
NM_001164508.2(NEB):c.16704+1G>A rs1227806763
NM_001164508.2(NEB):c.16705-1G>C
NM_001164508.2(NEB):c.17160C>A (p.Tyr5720Ter)
NM_001164508.2(NEB):c.17314_17315del (p.Asn5772fs)
NM_001164508.2(NEB):c.17411_17412del (p.Ala5804fs)
NM_001164508.2(NEB):c.17828del (p.Asn5943fs) rs1560031341
NM_001164508.2(NEB):c.17845-2A>T rs1177405905
NM_001164508.2(NEB):c.18157-2A>C
NM_001164508.2(NEB):c.1815dup (p.Gly606fs)
NM_001164508.2(NEB):c.18211del (p.Asp6071fs) rs997878946
NM_001164508.2(NEB):c.18372dup (p.Tyr6125fs)
NM_001164508.2(NEB):c.18504_18517del (p.Lys6168fs) rs747282057
NM_001164508.2(NEB):c.18579+1G>T
NM_001164508.2(NEB):c.18694-6_18694-2del rs1377029367
NM_001164508.2(NEB):c.18694-8_18707del
NM_001164508.2(NEB):c.1871T>A (p.Leu624Ter)
NM_001164508.2(NEB):c.18892-1G>T
NM_001164508.2(NEB):c.19156G>T (p.Glu6386Ter) rs2153702280
NM_001164508.2(NEB):c.19428+1dup
NM_001164508.2(NEB):c.19959del (p.Ser6654fs)
NM_001164508.2(NEB):c.20050-2A>T
NM_001164508.2(NEB):c.20088dup (p.Gly6697fs)
NM_001164508.2(NEB):c.20253del (p.Val6752fs)
NM_001164508.2(NEB):c.20442_20447dup (p.Ser6815_Arg6816dup) rs760783104
NM_001164508.2(NEB):c.20554G>T (p.Glu6852Ter) rs777819332
NM_001164508.2(NEB):c.2056G>T (p.Glu686Ter)
NM_001164508.2(NEB):c.20674C>T (p.Gln6892Ter)
NM_001164508.2(NEB):c.2095C>T (p.Gln699Ter)
NM_001164508.2(NEB):c.20975_20976del (p.Lys6992fs) rs1559680233
NM_001164508.2(NEB):c.21313-2A>G
NM_001164508.2(NEB):c.21318del (p.Lys7106fs) rs2092318339
NM_001164508.2(NEB):c.21444dup (p.Ser7149fs)
NM_001164508.2(NEB):c.21631-2A>G
NM_001164508.2(NEB):c.2204_2205del (p.Gln734_Cys735insTer)
NM_001164508.2(NEB):c.22162-1G>C
NM_001164508.2(NEB):c.22181T>C (p.Phe7394Ser) rs2153447855
NM_001164508.2(NEB):c.22215_22220delinsGC (p.Ile7405fs)
NM_001164508.2(NEB):c.22543A>G (p.Ser7515Gly)
NM_001164508.2(NEB):c.22641del (p.Met7547fs) rs1057515573
NM_001164508.2(NEB):c.22711A>T (p.Lys7571Ter)
NM_001164508.2(NEB):c.22821T>G (p.Tyr7607Ter)
NM_001164508.2(NEB):c.22869C>A (p.Tyr7623Ter)
NM_001164508.2(NEB):c.22905+1del rs771740564
NM_001164508.2(NEB):c.23017-12_23022delinsAT
NM_001164508.2(NEB):c.23128-1G>A
NM_001164508.2(NEB):c.23241+2T>A rs1553615846
NM_001164508.2(NEB):c.2329del (p.His777fs)
NM_001164508.2(NEB):c.23341dup (p.Ser7781fs)
NM_001164508.2(NEB):c.23416_23417del (p.Gln7806fs)
NM_001164508.2(NEB):c.23628_23631dup (p.Gln7878fs)
NM_001164508.2(NEB):c.23786dup (p.Thr7930fs) rs756612643
NM_001164508.2(NEB):c.23840dup (p.Leu7947fs)
NM_001164508.2(NEB):c.23848_23852del (p.Glu7950fs)
NM_001164508.2(NEB):c.23967_23970del (p.Pro7990fs) rs756384471
NM_001164508.2(NEB):c.23967dup (p.Pro7990fs) rs2064466448
NM_001164508.2(NEB):c.24003_24006del (p.Asn8001fs) rs1553568447
NM_001164508.2(NEB):c.24011_24014dup (p.Phe8005fs)
NM_001164508.2(NEB):c.24014_24015dup (p.Ser8006fs) rs1553568357
NM_001164508.2(NEB):c.24022-1G>A rs1553561697
NM_001164508.2(NEB):c.24072dup (p.Glu8025fs)
NM_001164508.2(NEB):c.24096_24099dup (p.Glu8034fs) rs1553561211
NM_001164508.2(NEB):c.24114G>A (p.Ser8038=) rs781581005
NM_001164508.2(NEB):c.2416-1G>C rs1553565278
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs) rs1266535163
NM_001164508.2(NEB):c.24182_24185dup (p.His8062fs) rs2152991690
NM_001164508.2(NEB):c.24211_24212dup (p.Leu8071fs) rs1553552384
NM_001164508.2(NEB):c.24242_24245dup (p.Leu8082fs)
NM_001164508.2(NEB):c.24267_24270dup (p.Val8091fs) rs747564597
NM_001164508.2(NEB):c.24272_24275dup (p.Lys8092fs)
NM_001164508.2(NEB):c.24282_24285del (p.Asn8094fs)
NM_001164508.2(NEB):c.24301-1G>T
NM_001164508.2(NEB):c.24302_24305dup (p.Leu8102fs) rs1344099907
NM_001164508.2(NEB):c.24339_24342del (p.Pro8114fs) rs934111355
NM_001164508.2(NEB):c.24358G>T (p.Glu8120Ter)
NM_001164508.2(NEB):c.24358del (p.Glu8120fs)
NM_001164508.2(NEB):c.24361_24364del (p.Arg8121fs)
NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter) rs763364977
NM_001164508.2(NEB):c.24457_24460dup (p.Lys8154fs)
NM_001164508.2(NEB):c.24510del (p.Ala8172fs)
NM_001164508.2(NEB):c.24549_24550del (p.Arg8183fs) rs755863625
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=) rs202048855
NM_001164508.2(NEB):c.24579G>C (p.Ser8193=) rs202048855
NM_001164508.2(NEB):c.24579G>T (p.Ser8193=)
NM_001164508.2(NEB):c.24590_24591del (p.Lys8197fs)
NM_001164508.2(NEB):c.24920del (p.Pro8307fs)
NM_001164508.2(NEB):c.24988C>T (p.Arg8330Ter) rs767709270
NM_001164508.2(NEB):c.250_267delinsA (p.Pro84fs)
NM_001164508.2(NEB):c.25201dup (p.Ser8401fs)
NM_001164508.2(NEB):c.25203_25204inv (p.Ile8402Val)
NM_001164508.2(NEB):c.25277dup (p.Val8427fs)
NM_001164508.2(NEB):c.25291_25292del (p.Ser8431fs)
NM_001164508.2(NEB):c.25297+1G>A rs113525641
NM_001164508.2(NEB):c.252del (p.Tyr85fs)
NM_001164508.2(NEB):c.25576T>G (p.Ter8526Glu)
NM_001164508.2(NEB):c.2637+2T>G
NM_001164508.2(NEB):c.2658T>G (p.Tyr886Ter)
NM_001164508.2(NEB):c.3127_3129dup (p.Asn1043dup) rs1288870299
NM_001164508.2(NEB):c.3255+1G>C rs375628303
NM_001164508.2(NEB):c.3255+1G>T rs375628303
NM_001164508.2(NEB):c.3682_3686del (p.Tyr1228fs)
NM_001164508.2(NEB):c.3874A>G (p.Ser1292Gly) rs1553521537
NM_001164508.2(NEB):c.3879+1G>C
NM_001164508.2(NEB):c.3879+2T>C rs2099350888
NM_001164508.2(NEB):c.3902del (p.Tyr1301fs)
NM_001164508.2(NEB):c.3987+1_3987+2delinsTG rs786204576
NM_001164508.2(NEB):c.3996C>G (p.Tyr1332Ter) rs1559093497
NM_001164508.2(NEB):c.403-2A>G
NM_001164508.2(NEB):c.4082del (p.Val1361fs)
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter) rs1057517360
NM_001164508.2(NEB):c.4337G>T (p.Gly1446Val) rs541803470
NM_001164508.2(NEB):c.4507-1G>A rs2154185810
NM_001164508.2(NEB):c.4611+1G>A rs1233792020
NM_001164508.2(NEB):c.4623del (p.Ala1542fs) rs1559039815
NM_001164508.2(NEB):c.4719+2T>A
NM_001164508.2(NEB):c.4897del (p.Ser1633fs)
NM_001164508.2(NEB):c.496_499del (p.Gln166fs) rs1340063197
NM_001164508.2(NEB):c.5200C>T (p.Gln1734Ter)
NM_001164508.2(NEB):c.5224C>T (p.Leu1742=) rs886054947
NM_001164508.2(NEB):c.5343+5G>A rs2154175371
NM_001164508.2(NEB):c.5349_5350del (p.Tyr1784fs)
NM_001164508.2(NEB):c.5680_5696del (p.Arg1894fs)
NM_001164508.2(NEB):c.5698_5703del (p.Tyr1900_Asn1901del) rs775531807
NM_001164508.2(NEB):c.5722del (p.Ser1908fs) rs1553484601
NM_001164508.2(NEB):c.5763+1G>A rs2154172204
NM_001164508.2(NEB):c.5764-1G>A
NM_001164508.2(NEB):c.5818_5828del (p.Leu1940fs)
NM_001164508.2(NEB):c.6078del (p.Lys2026fs) rs1057516758
NM_001164508.2(NEB):c.612+1G>A rs1202331107
NM_001164508.2(NEB):c.613-1G>C rs767693366
NM_001164508.2(NEB):c.6405_6411del (p.Asn2136fs)
NM_001164508.2(NEB):c.6407_6410del (p.Asn2136fs)
NM_001164508.2(NEB):c.6487C>T (p.Gln2163Ter)
NM_001164508.2(NEB):c.6568G>T (p.Glu2190Ter)
NM_001164508.2(NEB):c.6616C>T (p.Gln2206Ter)
NM_001164508.2(NEB):c.6759_6760insG (p.Thr2254fs)
NM_001164508.2(NEB):c.6916-2A>C
NM_001164508.2(NEB):c.7170T>A (p.Cys2390Ter)
NM_001164508.2(NEB):c.7345C>T (p.Gln2449Ter) rs2154134234
NM_001164508.2(NEB):c.7523_7526del (p.Ile2508fs) rs878854368
NM_001164508.2(NEB):c.7964A>G (p.Tyr2655Cys) rs1389374032
NM_001164508.2(NEB):c.7982G>A (p.Trp2661Ter)
NM_001164508.2(NEB):c.8031_8041del (p.Lys2677fs) rs398124172
NM_001164508.2(NEB):c.8350dup (p.Ala2784fs)
NM_001164508.2(NEB):c.835G>T (p.Glu279Ter)
NM_001164508.2(NEB):c.8425C>T (p.Arg2809Ter) rs762881892
NM_001164508.2(NEB):c.8685+4A>T
NM_001164508.2(NEB):c.8889+1G>A rs1553963960
NM_001164508.2(NEB):c.927+1G>C
NM_001164508.2(NEB):c.9284del (p.Val3095fs)
NM_001164508.2(NEB):c.9346G>T (p.Glu3116Ter) rs193042896
NM_001164508.2(NEB):c.9410del (p.Ser3137fs)
NM_001164508.2(NEB):c.9507_9508dup (p.Ile3170fs)
NM_001164508.2(NEB):c.9580C>T (p.Gln3194Ter) rs2098659971
NM_001164508.2(NEB):c.9775C>T (p.Arg3259Ter) rs1301228529
NM_001271208.1(NEB):c.7291G>A rs767302772

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