ClinVar Miner

List of variants in gene KBTBD13 reported as likely benign by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 13
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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.*41C>T rs185053492 0.00016
NM_001101362.3(KBTBD13):c.729C>G (p.Ser243Arg) rs767990371 0.00016
NM_001101362.3(KBTBD13):c.*699G>A rs142860231 0.00007
NM_001101362.3(KBTBD13):c.921C>T (p.Leu307=) rs773691737 0.00003
NM_001101362.3(KBTBD13):c.1010G>A (p.Arg337Gln) rs771413223 0.00001
NM_001101362.3(KBTBD13):c.*112AC[1] rs564772853
NM_001101362.3(KBTBD13):c.*543ATAAA[1] rs550812743
NM_001101362.3(KBTBD13):c.1101C>T (p.Cys367=) rs543844534
NM_001101362.3(KBTBD13):c.342C>A (p.Ala114=) rs538410855
NM_001101362.3(KBTBD13):c.742C>T (p.Arg248Cys) rs200549195

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