ClinVar Miner

List of variants reported as pathogenic for Nemaline myopathy 9 by Invitae

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Total variants: 4
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NM_006063.3(KLHL41):c.1296del (p.Lys432fs)
NM_006063.3(KLHL41):c.168_175del (p.Pro56_Tyr57insTer) rs1247404453
NM_006063.3(KLHL41):c.215dup (p.Glu73fs) rs775513051
NM_006063.3(KLHL41):c.930_939del (p.Asn310fs)

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