ClinVar Miner

List of variants in gene combination NEB, RIF1 reported as likely benign for Nemaline myopathy 2

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Total variants: 39
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HGVS dbSNP
NM_001271208.1(NEB):c.22378-30_22378-29dup rs751597547
NM_001271208.1(NEB):c.23940+17_23940+21del rs768100915
NM_001271208.2(NEB):c.21476G>A (p.Arg7159His) rs201094791
NM_001271208.2(NEB):c.21523-9A>G rs1553669362
NM_001271208.2(NEB):c.21669C>A (p.Gly7223=) rs775887037
NM_001271208.2(NEB):c.21684C>T (p.His7228=) rs372877088
NM_001271208.2(NEB):c.21778A>T (p.Thr7260Ser) rs187977960
NM_001271208.2(NEB):c.21790G>C (p.Asp7264His) rs201979610
NM_001271208.2(NEB):c.21967G>C (p.Glu7323Gln) rs768693028
NM_001271208.2(NEB):c.22077G>A (p.Lys7359=) rs267598918
NM_001271208.2(NEB):c.22227C>G (p.Asp7409Glu) rs192402741
NM_001271208.2(NEB):c.22377+7T>C rs762551492
NM_001271208.2(NEB):c.22378-10C>T rs781520817
NM_001271208.2(NEB):c.22479+7G>A rs750007608
NM_001271208.2(NEB):c.22533C>T (p.Leu7511=) rs371431256
NM_001271208.2(NEB):c.22743C>T (p.Asp7581=) rs372279388
NM_001271208.2(NEB):c.22752G>A (p.Glu7584=) rs201688876
NM_001271208.2(NEB):c.22905+9A>G rs144303545
NM_001271208.2(NEB):c.22983C>A (p.Ala7661=) rs185574478
NM_001271208.2(NEB):c.23011-6C>T rs1449487575
NM_001271208.2(NEB):c.23118C>T (p.Ser7706=) rs370873040
NM_001271208.2(NEB):c.23233-18del rs1553616477
NM_001271208.2(NEB):c.23346+16C>T rs75221580
NM_001271208.2(NEB):c.23372T>C (p.Met7791Thr) rs201767727
NM_001271208.2(NEB):c.23582A>G (p.Asn7861Ser) rs143602832
NM_001271208.2(NEB):c.23700C>T (p.Ile7900=) rs370825760
NM_001271208.2(NEB):c.23808A>G (p.Glu7936=) rs779612457
NM_001271208.2(NEB):c.24163A>G (p.Ile8055Val) rs144634228
NM_001271208.2(NEB):c.24213T>C (p.Phe8071=) rs748169663
NM_001271208.2(NEB):c.24312G>A (p.Ser8104=) rs763193315
NM_001271208.2(NEB):c.24720C>T (p.Pro8240=) rs371270146
NM_001271208.2(NEB):c.24750G>A (p.Val8250=) rs769610035
NM_001271208.2(NEB):c.24862A>G (p.Ile8288Val) rs551649582
NM_001271208.2(NEB):c.25104G>A (p.Gln8368=) rs774663967
NM_001271208.2(NEB):c.25140C>T (p.Asp8380=) rs201825451
NM_001271208.2(NEB):c.25365G>A (p.Ser8455=) rs1390774664
NM_001271208.2(NEB):c.25403-11_25403-10del rs1553519312
NM_001271208.2(NEB):c.25472C>T (p.Thr8491Met) rs78592085
NM_001271208.2(NEB):c.25669G>A (p.Val8557Ile) rs117861109

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