ClinVar Miner

List of variants in gene KBTBD13 studied for not specified

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001101362.3(KBTBD13):c.1200T>C (p.Gly400=) rs2919360 0.99001
NM_001101362.3(KBTBD13):c.798A>G (p.Glu266=) rs2919359 0.86820
NM_001101362.3(KBTBD13):c.242C>T (p.Ala81Val) rs2919358 0.46622
NM_001101362.3(KBTBD13):c.378G>T (p.Ala126=) rs2946642 0.45129
NM_001101362.3(KBTBD13):c.1128G>A (p.Thr376=) rs116623596 0.01793
NM_001101362.3(KBTBD13):c.1197C>T (p.Arg399=) rs150830358 0.01081
NM_001101362.3(KBTBD13):c.794G>A (p.Gly265Asp) rs146917406 0.00958
NM_001101362.3(KBTBD13):c.-13C>T rs147079462 0.00829
NM_001101362.3(KBTBD13):c.246G>C (p.Val82=) rs115182478 0.00729
NM_001101362.3(KBTBD13):c.1363A>G (p.Thr455Ala) rs116406369 0.00642
NM_001101362.3(KBTBD13):c.89G>A (p.Gly30Asp) rs138484272 0.00305
NM_001101362.3(KBTBD13):c.954C>G (p.Thr318=) rs368781046 0.00246
NM_001101362.3(KBTBD13):c.1077A>G (p.Gly359=) rs199526404 0.00224
NM_001101362.3(KBTBD13):c.115G>C (p.Gly39Arg) rs201420126 0.00223
NM_001101362.3(KBTBD13):c.214C>T (p.Leu72=) rs550537101 0.00205
NM_001101362.3(KBTBD13):c.188A>T (p.Gln63Leu) rs202004658 0.00175
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.880C>G (p.Pro294Ala) rs560695692 0.00023
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.876G>A (p.Pro292=) rs543905658 0.00006
NM_001101362.3(KBTBD13):c.230A>G (p.Glu77Gly) rs1384295949 0.00003
NM_001101362.3(KBTBD13):c.222G>A (p.Ala74=) rs752135049 0.00001
NM_001101362.3(KBTBD13):c.295C>T (p.His99Tyr) rs886038411 0.00001
NM_001101362.3(KBTBD13):c.197G>A (p.Arg66His) rs939242678
NM_001101362.3(KBTBD13):c.219G>A (p.Ala73=) rs868363260
NM_001101362.3(KBTBD13):c.244G>A (p.Val82Met) rs1303411209
NM_001101362.3(KBTBD13):c.335C>A (p.Ala112Glu)
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.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
NM_001101362.3(KBTBD13):c.867C>A (p.Ala289=) rs1057524136

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