ClinVar Miner

List of variants studied for Nemaline Myopathy, Recessive by Illumina Laboratory Services, Illumina

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000363.5(TNNI3):c.373-10= rs7252610 0.99999
NM_003283.6(TNNT1):c.-20A>G rs9636153 0.84878
NM_003283.6(TNNT1):c.33-8G>A rs76630067 0.04332
NM_001164508.2(NEB):c.*264_*265del rs59509952 0.02726
NM_138638.5(CFL2):c.*1295_*1297del rs199532343 0.01431
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.17635-3dup 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_001164508.2(NEB):c.21418-6del rs56026241
NM_138638.5(CFL2):c.*1393del rs5807790
NM_138638.5(CFL2):c.*2076_*2078dup rs780398130
NM_138638.5(CFL2):c.*2233del rs141011293
NM_138638.5(CFL2):c.312-7del rs35515423

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