ClinVar Miner

List of variants reported as likely pathogenic for Nemaline myopathy 2 by Invitae

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Total variants: 37
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HGVS dbSNP
NM_001271208.2(NEB):c.11077-1G>A rs1458096844
NM_001271208.2(NEB):c.11806-1G>A rs886041851
NM_001271208.2(NEB):c.11910+1G>A rs774495973
NM_001271208.2(NEB):c.1258-2A>G rs1553608621
NM_001271208.2(NEB):c.13060-2A>G
NM_001271208.2(NEB):c.13369-6_13372delinsGGCATT
NM_001271208.2(NEB):c.13476+1G>A rs1578868550
NM_001271208.2(NEB):c.17953_18472-56del
NM_001271208.2(NEB):c.18261+1G>T rs112544116
NM_001271208.2(NEB):c.18367-1_18370del rs1553770146
NM_001271208.2(NEB):c.1897-1G>A rs1553593177
NM_001271208.2(NEB):c.18996+2T>C rs1577636079
NM_001271208.2(NEB):c.20682+1G>A rs1576819152
NM_001271208.2(NEB):c.21841-2A>G rs1389892619
NM_001271208.2(NEB):c.22695+2T>C rs200449517
NM_001271208.2(NEB):c.23232+2T>C rs112610938
NM_001271208.2(NEB):c.23556+1G>T rs1011425121
NM_001271208.2(NEB):c.23847+2T>C rs545937015
NM_001271208.2(NEB):c.24219+1G>A rs755239192
NM_001271208.2(NEB):c.24498+1G>A rs775631800
NM_001271208.2(NEB):c.24685-1G>C rs1574772311
NM_001271208.2(NEB):c.2472_2638-455del
NM_001271208.2(NEB):c.24778-1G>A rs1574741105
NM_001271208.2(NEB):c.2523+2T>A
NM_001271208.2(NEB):c.3042+1G>A
NM_001271208.2(NEB):c.3043-1G>A rs113326313
NM_001271208.2(NEB):c.36+1G>C
NM_001271208.2(NEB):c.3874A>G (p.Ser1292Gly) rs1553521537
NM_001271208.2(NEB):c.6076-1G>T rs1553469502
NM_001271208.2(NEB):c.6076-2A>C rs1553469514
NM_001271208.2(NEB):c.6076-2A>G rs1553469514
NM_001271208.2(NEB):c.613-1G>C rs767693366
NM_001271208.2(NEB):c.6183+1G>A rs557870969
NM_001271208.2(NEB):c.717+1G>A rs1577833924
NM_001271208.2(NEB):c.7228-1G>A rs1057516996
NM_001271208.2(NEB):c.822+1G>A
NM_001271208.2(NEB):c.9414+1G>T rs1255445731

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