ClinVar Miner

List of variants studied for childhood-onset nemaline myopathy by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.21417+3A>G rs148950085 0.00004
NM_001164508.2(NEB):c.12018+1G>A rs762278237 0.00003
NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter) rs754272530 0.00003
NM_001164508.2(NEB):c.13130_13131del (p.Met4377fs) rs1490309743 0.00001
NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter) rs748922882 0.00001
NM_001164508.2(NEB):c.294+1G>A rs759956258 0.00001
NM_001100.4(ACTA1):c.158A>T (p.Asp53Val) rs2102736424
NM_001100.4(ACTA1):c.236C>T (p.Thr79Ile) rs1659978452
NM_001100.4(ACTA1):c.541del (p.Asp181fs) rs759242559
NM_001164508.2(NEB):c.11805+2T>A
NM_001164508.2(NEB):c.13147C>T (p.Gln4383Ter) rs1212374733
NM_001164508.2(NEB):c.19102-10_19102-4del rs1577576425
NM_001164508.2(NEB):c.20122G>A (p.Val6708Ile)
NM_001164508.2(NEB):c.20719del (p.His6907fs)
NM_001164508.2(NEB):c.2079C>A (p.Cys693Ter)
NM_001164508.2(NEB):c.24115-151C>A rs1575076895
NM_001164508.2(NEB):c.24211_24212dup (p.Leu8071fs) rs1553552384
NM_001164508.2(NEB):c.24666del (p.Phe8222fs) rs794727136
NM_001164508.2(NEB):c.5343+5G>A rs2154175371
NM_001164508.2(NEB):c.7235A>G (p.Tyr2412Cys) rs1575122611
NM_001164508.2(NEB):c.8697del (p.Lys2899fs)
NM_001164508.2(NEB):c.8889+1G>A rs1553963960

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