ClinVar Miner

List of variants in gene KBTBD13 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: 4
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NM_001101362.2(KBTBD13):c.1170G>C (p.Lys390Asn)
NM_001101362.2(KBTBD13):c.1222C>T (p.Arg408Cys) rs387907090
NM_001101362.2(KBTBD13):c.244G>A (p.Val82Met) rs1303411209
NM_001101362.2(KBTBD13):c.742C>A (p.Arg248Ser) rs200549195

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