ClinVar Miner

List of variants in gene KBTBD13 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: 21
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HGVS dbSNP
NM_001101362.2(KBTBD13):c.1010G>A (p.Arg337Gln) rs771413223
NM_001101362.2(KBTBD13):c.117C>T (p.Gly39=) rs367684457
NM_001101362.2(KBTBD13):c.1341T>C (p.Ala447=) rs1298809117
NM_001101362.2(KBTBD13):c.1372C>T (p.Leu458=) rs959915743
NM_001101362.2(KBTBD13):c.163G>A (p.Ala55Thr) rs551460635
NM_001101362.2(KBTBD13):c.168A>C (p.Gly56=) rs1339755233
NM_001101362.2(KBTBD13):c.189G>A (p.Gln63=) rs777062916
NM_001101362.2(KBTBD13):c.214C>T (p.Leu72=) rs550537101
NM_001101362.2(KBTBD13):c.247G>C (p.Glu83Gln) rs781438362
NM_001101362.2(KBTBD13):c.261C>T (p.Phe87=) rs770172865
NM_001101362.2(KBTBD13):c.276G>C (p.Ala92=) rs566529505
NM_001101362.2(KBTBD13):c.333C>G (p.Asp111Glu) rs188146580
NM_001101362.2(KBTBD13):c.361G>A (p.Val121Met) rs201466173
NM_001101362.2(KBTBD13):c.375C>G (p.Ala125=) rs540939027
NM_001101362.2(KBTBD13):c.411G>A (p.Ala137=) rs944865368
NM_001101362.2(KBTBD13):c.471C>T (p.Tyr157=) rs550724858
NM_001101362.2(KBTBD13):c.477C>G (p.Ala159=) rs1052175397
NM_001101362.2(KBTBD13):c.576G>C (p.Ala192=) rs1490959556
NM_001101362.2(KBTBD13):c.742C>T (p.Arg248Cys) rs200549195
NM_001101362.2(KBTBD13):c.810G>C (p.Thr270=) rs912566376
NM_001101362.2(KBTBD13):c.900C>T (p.Cys300=) rs778682102

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