ClinVar Miner

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

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.11729A>G (p.Asp3910Gly) rs35740585 0.01429
NM_001164508.2(NEB):c.914A>G (p.Asp305Gly) rs36105240 0.00148
NM_001164508.2(NEB):c.23241+16C>T rs75221580 0.00061
NM_001164508.2(NEB):c.3879+8G>A rs376511134 0.00016
NM_001164508.2(NEB):c.22428C>T (p.Leu7476=) rs371431256 0.00005
NM_001164508.2(NEB):c.24207G>A (p.Ser8069=) rs763193315 0.00001
NM_001164508.2(NEB):c.19102-31_19102-30del rs774225336
NM_001164508.2(NEB):c.21972G>A (p.Lys7324=) rs267598918
NM_001164508.2(NEB):c.22273-36CT[5] rs751597547
NM_001164508.2(NEB):c.23128-18del rs1553616477
NM_001164508.2(NEB):c.6507G>A (p.Lys2169=) rs267598923
NM_001164508.2(NEB):c.9363T>G (p.Pro3121=) rs6709886
NM_001271208.1(NEB):c.23940+17_23940+21del rs768100915

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