ClinVar Miner

List of variants reported as likely pathogenic for Nemaline myopathy 2 by Invitae

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Total variants: 21
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HGVS dbSNP
NM_001271208.2(NEB):c.11077-1G>A
NM_001271208.2(NEB):c.13476+1G>A
NM_001271208.2(NEB):c.13788+1G>A rs1553862061
NM_001271208.2(NEB):c.17953_18472-56del
NM_001271208.2(NEB):c.18261+1G>T rs112544116
NM_001271208.2(NEB):c.18367-1_18370del rs1553770146
NM_001271208.2(NEB):c.18996+2T>C
NM_001271208.2(NEB):c.20682+1G>A
NM_001271208.2(NEB):c.22695+2T>C rs200449517
NM_001271208.2(NEB):c.23232+2T>C rs112610938
NM_001271208.2(NEB):c.23847+2T>C rs545937015
NM_001271208.2(NEB):c.24498+1G>A rs775631800
NM_001271208.2(NEB):c.24684G>A (p.Ser8228=) rs202048855
NM_001271208.2(NEB):c.24685-1G>C
NM_001271208.2(NEB):c.24778-1G>A
NM_001271208.2(NEB):c.3043-1G>A rs113326313
NM_001271208.2(NEB):c.6076-2A>C rs1553469514
NM_001271208.2(NEB):c.6076-2A>G rs1553469514
NM_001271208.2(NEB):c.613-1G>C rs767693366
NM_001271208.2(NEB):c.6183+1G>A rs557870969
NM_001271208.2(NEB):c.717+1G>A

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