ClinVar Miner

List of variants reported as likely pathogenic 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: 154
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
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.23742+2T>C rs545937015 0.00006
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.24402C>G (p.Tyr8134Ter) rs758277406 0.00002
NM_001164508.2(NEB):c.9046C>T (p.Arg3016Ter) rs1057517977 0.00002
NM_001271208.2(NEB):c.17276del (p.Gln5759fs) rs1346554177 0.00002
NM_001164508.2(NEB):c.1365+2T>C rs770797137 0.00001
NM_001164508.2(NEB):c.18891+1G>A rs1443738549 0.00001
NM_001164508.2(NEB):c.22375-1G>A rs949331605 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.2415+2T>C rs1057517399 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.7228-1G>A rs1057516996 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.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.1470+1G>C rs1220787593
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.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.18694-8_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.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.22215_22220delinsGC (p.Ile7405fs)
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.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.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.2416-1G>C rs1553565278
NM_001164508.2(NEB):c.24211_24212dup (p.Leu8071fs) rs1553552384
NM_001164508.2(NEB):c.24242_24245dup (p.Leu8082fs)
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.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.24457_24460dup (p.Lys8154fs)
NM_001164508.2(NEB):c.24510del (p.Ala8172fs)
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.250_267delinsA (p.Pro84fs)
NM_001164508.2(NEB):c.25201dup (p.Ser8401fs)
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.2637+2T>G
NM_001164508.2(NEB):c.2658T>G (p.Tyr886Ter)
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.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.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.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.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.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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