ClinVar Miner

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

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_006063.3(KLHL41):c.1186G>T (p.Val396Leu) rs147650614
NM_006063.3(KLHL41):c.1569T>C (p.Asp523=) rs373954289
NM_006063.3(KLHL41):c.1620G>A (p.Leu540=) rs1157611870
NM_006063.3(KLHL41):c.197T>C (p.Ile66Thr) rs116809051
NM_006063.3(KLHL41):c.291T>C (p.Asp97=) rs537913427
NM_006063.3(KLHL41):c.398G>A (p.Gly133Asp) rs147294651
NM_006063.3(KLHL41):c.840T>A (p.Gly280=) rs755378546
NM_006063.3(KLHL41):c.913C>T (p.Leu305Phe) rs149971244

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