ClinVar Miner

List of variants in gene KBTBD13 reported as likely benign by GeneDx

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001101362.3(KBTBD13):c.*222G>A rs114112578 0.00410
NM_001101362.3(KBTBD13):c.1119C>T (p.Asn373=) rs201760548 0.00109
NM_001101362.3(KBTBD13):c.-16G>A rs374744877 0.00083
NM_001101362.3(KBTBD13):c.171T>C (p.Gly57=) rs369379657 0.00078
NM_001101362.3(KBTBD13):c.189G>A (p.Gln63=) rs777062916 0.00044
NM_001101362.3(KBTBD13):c.963G>A (p.Val321=) rs548699720 0.00036
NM_001101362.3(KBTBD13):c.-17C>T rs372844012 0.00019
NM_001101362.3(KBTBD13):c.1372C>T (p.Leu458=) rs959915743 0.00019
NM_001101362.3(KBTBD13):c.958G>T (p.Val320Leu) rs367648853 0.00016
NM_001101362.3(KBTBD13):c.2T>G (p.Met1Arg) rs374196960 0.00011
NM_001101362.3(KBTBD13):c.921C>T (p.Leu307=) rs773691737 0.00003
NM_001101362.3(KBTBD13):c.222G>A (p.Ala74=) rs752135049 0.00001
NM_001101362.3(KBTBD13):c.219G>A (p.Ala73=) rs868363260
NM_001101362.3(KBTBD13):c.429T>C (p.Pro143=) rs1057522825
NM_001101362.3(KBTBD13):c.516C>T (p.Asp172=) rs142592180
NM_001101362.3(KBTBD13):c.867C>A (p.Ala289=) rs1057524136

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