ClinVar Miner

List of variants reported as uncertain significance for Nemaline Myopathy, Recessive

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg) rs114089598 0.00312
NM_003283.6(TNNT1):c.-12+15G>A rs539247551 0.00027
NM_001164508.2(NEB):c.780A>G (p.Pro260=) rs80255720 0.00012
NM_003283.6(TNNT1):c.355G>A (p.Glu119Lys) rs752992299 0.00006
NM_001164508.2(NEB):c.17193G>A (p.Lys5731=) rs886054939
NM_001164508.2(NEB):c.17635-3del rs3214503
NM_001164508.2(NEB):c.17635-4_17635-3dup rs3214503
NM_001164508.2(NEB):c.19428+8_19428+9insA rs886054936
NM_001164508.2(NEB):c.20467-4dup rs10687343
NM_001164508.2(NEB):c.20467-5_20467-4dup rs10687343
NM_001164508.2(NEB):c.20467-6_20467-4dup rs10687343
NM_138638.5(CFL2):c.*2076_*2078dup rs780398130
NM_138638.5(CFL2):c.*2233del rs141011293

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