ClinVar Miner

List of variants in gene KBTBD13 reported as benign for Nemaline myopathy 6

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Gene type:
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Total variants: 78
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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.*305C>T rs2946643 0.85557
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.*122T>C rs12901617 0.41689
NM_001101362.3(KBTBD13):c.*897A>G rs12905499 0.40070
NM_001101362.3(KBTBD13):c.*520A>G rs12904843 0.36673
NM_001101362.3(KBTBD13):c.1128G>A (p.Thr376=) rs116623596 0.01793
NM_001101362.3(KBTBD13):c.*1611G>A rs16948496 0.01149
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.246G>C (p.Val82=) rs115182478 0.00729
NM_001101362.3(KBTBD13):c.1363A>G (p.Thr455Ala) rs116406369 0.00642
NM_001101362.3(KBTBD13):c.*222G>A rs114112578 0.00410
NM_001101362.3(KBTBD13):c.*1075C>T rs75894955 0.00380
NM_001101362.3(KBTBD13):c.*995T>C rs146228424 0.00305
NM_001101362.3(KBTBD13):c.89G>A (p.Gly30Asp) rs138484272 0.00305
NM_001101362.3(KBTBD13):c.*1650T>C rs142046728 0.00304
NM_001101362.3(KBTBD13):c.*1499T>C rs117320020 0.00275
NM_001101362.3(KBTBD13):c.*1122C>T rs111801368 0.00252
NM_001101362.3(KBTBD13):c.954C>G (p.Thr318=) rs368781046 0.00246
NM_001101362.3(KBTBD13):c.*1556G>A rs148606250 0.00226
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.188A>T (p.Gln63Leu) rs202004658 0.00175
NM_001101362.3(KBTBD13):c.1119C>T (p.Asn373=) rs201760548 0.00109
NM_001101362.3(KBTBD13):c.981C>G (p.Thr327=) rs184130258 0.00106
NM_001101362.3(KBTBD13):c.117C>T (p.Gly39=) rs367684457 0.00105
NM_001101362.3(KBTBD13):c.171T>C (p.Gly57=) rs369379657 0.00078
NM_001101362.3(KBTBD13):c.795C>T (p.Gly265=) rs577503698 0.00038
NM_001101362.3(KBTBD13):c.963G>A (p.Val321=) rs548699720 0.00036
NM_001101362.3(KBTBD13):c.471C>T (p.Tyr157=) rs550724858 0.00032
NM_001101362.3(KBTBD13):c.769G>C (p.Asp257His) rs568675071 0.00020
NM_001101362.3(KBTBD13):c.331G>A (p.Asp111Asn) rs567309902 0.00019
NM_001101362.3(KBTBD13):c.1305C>T (p.Ser435=) rs777830269 0.00018
NM_001101362.3(KBTBD13):c.729C>G (p.Ser243Arg) rs767990371 0.00016
NM_001101362.3(KBTBD13):c.958G>T (p.Val320Leu) rs367648853 0.00016
NM_001101362.3(KBTBD13):c.1232C>T (p.Thr411Met) rs372826347 0.00014
NM_001101362.3(KBTBD13):c.394G>A (p.Gly132Ser) rs373039171 0.00014
NM_001101362.3(KBTBD13):c.283C>A (p.Arg95Ser) rs377071831 0.00011
NM_001101362.3(KBTBD13):c.436C>A (p.Arg146Ser) rs922207893 0.00008
NM_001101362.3(KBTBD13):c.670G>A (p.Val224Met) rs377035059 0.00008
NM_001101362.3(KBTBD13):c.224A>C (p.Glu75Ala) rs755775428 0.00006
NM_001101362.3(KBTBD13):c.43G>A (p.Gly15Ser) rs779819069 0.00006
NM_001101362.3(KBTBD13):c.891C>T (p.Gly297=) rs756802075 0.00006
NM_001101362.3(KBTBD13):c.947A>C (p.Asp316Ala) rs1021462149 0.00005
NM_001101362.3(KBTBD13):c.499C>G (p.Pro167Ala) rs749520412 0.00004
NM_001101362.3(KBTBD13):c.977G>A (p.Arg326Gln) rs779729198 0.00004
NM_001101362.3(KBTBD13):c.230A>G (p.Glu77Gly) rs1384295949 0.00003
NM_001101362.3(KBTBD13):c.329G>A (p.Cys110Tyr) rs1479308750 0.00003
NM_001101362.3(KBTBD13):c.1226T>C (p.Met409Thr) rs767005954 0.00002
NM_001101362.3(KBTBD13):c.451G>A (p.Ala151Thr) rs1167697962 0.00002
NM_001101362.3(KBTBD13):c.1220A>G (p.Asn407Ser) rs1457792778 0.00001
NM_001101362.3(KBTBD13):c.163G>A (p.Ala55Thr) rs551460635 0.00001
NM_001101362.3(KBTBD13):c.222G>A (p.Ala74=) rs752135049 0.00001
NM_001101362.3(KBTBD13):c.319G>A (p.Ala107Thr) rs944999468 0.00001
NM_001101362.3(KBTBD13):c.844G>A (p.Ala282Thr) rs375482474 0.00001
NM_001101362.3(KBTBD13):c.*846G>T rs17804968
NM_001101362.3(KBTBD13):c.1225A>C (p.Met409Leu)
NM_001101362.3(KBTBD13):c.1309C>G (p.Gln437Glu) rs749128043
NM_001101362.3(KBTBD13):c.133G>T (p.Ala45Ser)
NM_001101362.3(KBTBD13):c.1358C>T (p.Ser453Leu) rs753712072
NM_001101362.3(KBTBD13):c.172_191del (p.Phe58fs) rs778782105
NM_001101362.3(KBTBD13):c.288T>G (p.Phe96Leu) rs759474251
NM_001101362.3(KBTBD13):c.293A>T (p.Glu98Val) rs930704522
NM_001101362.3(KBTBD13):c.333C>G (p.Asp111Glu) rs188146580
NM_001101362.3(KBTBD13):c.361G>A (p.Val121Met) rs201466173
NM_001101362.3(KBTBD13):c.370A>G (p.Ser124Gly)
NM_001101362.3(KBTBD13):c.403G>C (p.Glu135Gln) rs530549178
NM_001101362.3(KBTBD13):c.458G>A (p.Arg153Gln)
NM_001101362.3(KBTBD13):c.502G>A (p.Gly168Ser) rs1595912667
NM_001101362.3(KBTBD13):c.516C>G (p.Asp172Glu) rs142592180
NM_001101362.3(KBTBD13):c.516C>T (p.Asp172=) rs142592180
NM_001101362.3(KBTBD13):c.662G>A (p.Ser221Asn)
NM_001101362.3(KBTBD13):c.751A>G (p.Thr251Ala) rs757250245
NM_001101362.3(KBTBD13):c.892G>C (p.Val298Leu)
NM_001101362.3(KBTBD13):c.958G>A (p.Val320Met) rs367648853

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