ClinVar Miner

List of variants in gene KBTBD13 reported as uncertain significance for not specified

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001101362.3(KBTBD13):c.230A>G (p.Glu77Gly) rs1384295949 0.00003
NM_001101362.3(KBTBD13):c.197G>A (p.Arg66His) rs939242678
NM_001101362.3(KBTBD13):c.244G>A (p.Val82Met) rs1303411209
NM_001101362.3(KBTBD13):c.335C>A (p.Ala112Glu)
NM_001101362.3(KBTBD13):c.610G>T (p.Val204Leu) rs1334100611
NM_001101362.3(KBTBD13):c.742C>A (p.Arg248Ser) rs200549195
NM_001101362.3(KBTBD13):c.742C>T (p.Arg248Cys) rs200549195

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