ClinVar Miner

List of variants in gene KLHL41 reported as pathogenic for childhood-onset nemaline myopathy

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_006063.3(KLHL41):c.1238C>T (p.Ser413Leu) rs730882260
NM_006063.3(KLHL41):c.1296del (p.Lys432fs)
NM_006063.3(KLHL41):c.168_175del (p.Pro56_Tyr57insTer) rs1247404453
NM_006063.3(KLHL41):c.1748_1755del (p.Lys583fs) rs730882258
NM_006063.3(KLHL41):c.215dup (p.Glu73fs) rs775513051
NM_006063.3(KLHL41):c.459delinsACTC (p.Ala154_Arg155insLeu) rs730882257
NM_006063.3(KLHL41):c.575_577AAG[2] (p.Glu194del) rs730882259
NM_006063.3(KLHL41):c.641del (p.Asn214fs) rs730882235
NM_006063.3(KLHL41):c.930_939del (p.Asn310fs)

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