ClinVar Miner

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

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Total variants: 39
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HGVS dbSNP
NM_001271208.2(NEB):c.10140C>T (p.Ser3380=) rs199870629
NM_001271208.2(NEB):c.11077-4G>T rs878924060
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.12331-5T>C rs1171513278
NM_001271208.2(NEB):c.12748-10A>G rs1553872572
NM_001271208.2(NEB):c.13218C>G (p.Thr4406=) rs1553867144
NM_001271208.2(NEB):c.13362C>T (p.Ile4454=) rs1553865873
NM_001271208.2(NEB):c.13369-9T>C rs1553865725
NM_001271208.2(NEB):c.13476+7G>A rs1553865548
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.17325T>C (p.Ala5775=) rs375534633
NM_001271208.2(NEB):c.17574G>A (p.Thr5858=) rs780714195
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.19803G>A (p.Val6601=) rs374957115
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.20199C>T (p.Ile6733=) rs1322022679
NM_001271208.2(NEB):c.20467-4_20467-3insTA rs1553708977
NM_001271208.2(NEB):c.21207+8T>C rs1553686509
NM_001271208.2(NEB):c.21300A>G (p.Gln7100=) rs1050612430
NM_001271208.2(NEB):c.21523-9A>G rs1553669362
NM_001271208.2(NEB):c.22377+7T>C rs762551492
NM_001271208.2(NEB):c.22479+7G>A rs750007608
NM_001271208.2(NEB):c.23011-6C>T rs1449487575
NM_001271208.2(NEB):c.23808A>G (p.Glu7936=) rs779612457
NM_001271208.2(NEB):c.24720C>T (p.Pro8240=) rs371270146
NM_001271208.2(NEB):c.25403-11_25403-10del rs1553519312
NM_001271208.2(NEB):c.295-8C>T rs767768026
NM_001271208.2(NEB):c.6219G>A (p.Gly2073=) rs960591817
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.807C>A (p.Thr269=) rs1430006856
NM_001271208.2(NEB):c.8406C>T (p.Leu2802=) rs377170982
NM_001271208.2(NEB):c.927+10G>A rs1328277826
NM_001271208.2(NEB):c.927+7T>C rs746940000

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