List of variants in gene KBTBD13 studied for Nemaline Myopathy, Dominant

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001101362.3(KBTBD13):c.-13C>T	rs147079462	0.00829
NM_001101362.2(KBTBD13):c.*1758T>G	rs151148121	0.00304
NM_001101362.3(KBTBD13):c.7C>T (p.Arg3Trp)	rs766815771	0.00041
NM_001101362.3(KBTBD13):c.*694T>C	rs886051341	0.00001
NM_001101362.3(KBTBD13):c.*1117CTC[2]	rs886051343
NM_001101362.3(KBTBD13):c.*112AC[1]	rs564772853
NM_001101362.3(KBTBD13):c.*387dup	rs886051339
NM_001101362.3(KBTBD13):c.*543ATAAA[1]	rs550812743

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