ClinVar Miner

List of variants in gene KBTBD12

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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_207335.4(KBTBD12):c.1376G>A (p.Ser459Asn) rs142019537 0.00048
NM_207335.4(KBTBD12):c.1621C>T (p.Arg541Cys) rs200594961 0.00023
NM_207335.4(KBTBD12):c.973A>C (p.Thr325Pro) rs376450459 0.00011
NM_207335.4(KBTBD12):c.1712A>G (p.Lys571Arg) rs190687915 0.00008
NM_207335.4(KBTBD12):c.1295T>C (p.Val432Ala) rs371023304 0.00007
NM_207335.4(KBTBD12):c.1624A>G (p.Thr542Ala) rs371628455 0.00007
NM_207335.4(KBTBD12):c.461A>C (p.Lys154Thr) rs868097830 0.00007
NM_207335.4(KBTBD12):c.1349T>C (p.Leu450Pro) rs752057115 0.00006
NM_207335.4(KBTBD12):c.539T>A (p.Leu180His) rs372860719 0.00005
NM_207335.4(KBTBD12):c.82G>A (p.Ala28Thr) rs376307054 0.00005
NM_207335.4(KBTBD12):c.1370G>A (p.Arg457Gln) rs756251620 0.00004
NM_207335.4(KBTBD12):c.1672G>A (p.Gly558Arg) rs778441290 0.00003
NM_207335.4(KBTBD12):c.1820G>A (p.Arg607Gln) rs751053641 0.00003
NM_207335.4(KBTBD12):c.223T>C (p.Tyr75His) rs767225016 0.00003
NM_207335.4(KBTBD12):c.299A>C (p.Asn100Thr) rs377332540 0.00003
NM_207335.4(KBTBD12):c.438A>C (p.Glu146Asp) rs1014693902 0.00002
NM_207335.4(KBTBD12):c.625C>T (p.Arg209Cys) rs1305405796 0.00002
NM_207335.4(KBTBD12):c.1042C>A (p.Gln348Lys) rs1939506566 0.00001
NM_207335.4(KBTBD12):c.1389G>T (p.Leu463Phe) rs556191230 0.00001
NM_207335.4(KBTBD12):c.1451G>A (p.Arg484Gln) rs754112085 0.00001
NM_207335.4(KBTBD12):c.1529T>C (p.Val510Ala) rs777171458 0.00001
NM_207335.4(KBTBD12):c.1622G>A (p.Arg541His) rs761700076 0.00001
NM_207335.4(KBTBD12):c.1651G>A (p.Asp551Asn) rs779783007 0.00001
NM_207335.4(KBTBD12):c.1697A>G (p.His566Arg) rs752198918 0.00001
NM_207335.4(KBTBD12):c.407T>C (p.Ile136Thr) rs1402085932 0.00001
NM_207335.4(KBTBD12):c.677A>C (p.Asn226Thr) rs2472860576 0.00001
NM_207335.4(KBTBD12):c.97G>A (p.Val33Met) rs755667279 0.00001
NM_207335.4(KBTBD12):c.995A>C (p.Asn332Thr) rs777384534 0.00001
NM_207335.4(KBTBD12):c.1000A>G (p.Ile334Val)
NM_207335.4(KBTBD12):c.1100A>G (p.Glu367Gly)
NM_207335.4(KBTBD12):c.1158C>A (p.Asp386Glu) rs1939612788
NM_207335.4(KBTBD12):c.1163A>G (p.Tyr388Cys) rs2472866662
NM_207335.4(KBTBD12):c.1238G>C (p.Arg413Pro)
NM_207335.4(KBTBD12):c.125T>G (p.Phe42Cys)
NM_207335.4(KBTBD12):c.1379A>C (p.Asn460Thr)
NM_207335.4(KBTBD12):c.1393T>C (p.Tyr465His) rs748009365
NM_207335.4(KBTBD12):c.1398C>A (p.Asp466Glu) rs200929948
NM_207335.4(KBTBD12):c.1424G>A (p.Arg475Gln) rs183002701
NM_207335.4(KBTBD12):c.143T>C (p.Val48Ala)
NM_207335.4(KBTBD12):c.1465G>C (p.Val489Leu)
NM_207335.4(KBTBD12):c.1528G>A (p.Val510Ile)
NM_207335.4(KBTBD12):c.1532G>A (p.Arg511Gln)
NM_207335.4(KBTBD12):c.154T>G (p.Phe52Val)
NM_207335.4(KBTBD12):c.1597A>G (p.Met533Val)
NM_207335.4(KBTBD12):c.1684G>A (p.Gly562Arg)
NM_207335.4(KBTBD12):c.1726C>A (p.Leu576Met) rs746348035
NM_207335.4(KBTBD12):c.1777C>T (p.His593Tyr) rs776423756
NM_207335.4(KBTBD12):c.1793T>A (p.Val598Asp)
NM_207335.4(KBTBD12):c.1819C>G (p.Arg607Gly) rs529486685
NM_207335.4(KBTBD12):c.22A>G (p.Lys8Glu) rs2472858610
NM_207335.4(KBTBD12):c.248C>T (p.Ser83Leu)
NM_207335.4(KBTBD12):c.266T>G (p.Met89Arg)
NM_207335.4(KBTBD12):c.470A>G (p.Tyr157Cys) rs2472859941
NM_207335.4(KBTBD12):c.542T>C (p.Ile181Thr)
NM_207335.4(KBTBD12):c.564A>G (p.Ile188Met)
NM_207335.4(KBTBD12):c.646C>G (p.Leu216Val)
NM_207335.4(KBTBD12):c.662G>C (p.Arg221Thr)
NM_207335.4(KBTBD12):c.716T>G (p.Met239Arg)
NM_207335.4(KBTBD12):c.734A>T (p.Asp245Val) rs371682478
NM_207335.4(KBTBD12):c.745A>G (p.Ile249Val) rs768405789
NM_207335.4(KBTBD12):c.800T>C (p.Leu267Pro)
NM_207335.4(KBTBD12):c.851C>T (p.Ser284Phe)
NM_207335.4(KBTBD12):c.875G>A (p.Arg292Lys)
NM_207335.4(KBTBD12):c.916C>T (p.Arg306Trp)
NM_207335.4(KBTBD12):c.917G>A (p.Arg306Gln)
NM_207335.4(KBTBD12):c.926A>G (p.Tyr309Cys)
NM_207335.4(KBTBD12):c.970T>G (p.Cys324Gly)
NM_207335.4(KBTBD12):c.983T>G (p.Val328Gly)

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