ClinVar Miner

List of variants in gene KAT6A studied for Inborn genetic diseases

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Gene type:
ClinVar version:
Total variants: 215
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HGVS dbSNP gnomAD frequency
NM_006766.5(KAT6A):c.3192G>A (p.Thr1064=) rs13748 0.28848
NM_006766.5(KAT6A):c.401T>C (p.Leu134Ser) rs3824276 0.09866
NM_006766.5(KAT6A):c.2982G>A (p.Pro994=) rs3824275 0.09852
NM_006766.5(KAT6A):c.4455C>T (p.Ser1485=) rs3739365 0.09784
NM_006766.5(KAT6A):c.4872C>G (p.Val1624=) rs2980901 0.03759
NM_006766.5(KAT6A):c.4914C>T (p.Cys1638=) rs61740920 0.02661
NM_006766.5(KAT6A):c.2694A>G (p.Gln898=) rs16890946 0.01679
NM_006766.5(KAT6A):c.3577G>A (p.Val1193Ile) rs34620183 0.00973
NM_006766.5(KAT6A):c.4324G>A (p.Ala1442Thr) rs113195648 0.00745
NM_006766.5(KAT6A):c.5379G>A (p.Gln1793=) rs34566148 0.00553
NM_006766.5(KAT6A):c.2487A>G (p.Val829=) rs10104089 0.00516
NM_006766.5(KAT6A):c.5913C>T (p.Asn1971=) rs140266175 0.00370
NM_006766.5(KAT6A):c.1477C>T (p.Leu493=) rs61753684 0.00201
NM_006766.5(KAT6A):c.4146G>A (p.Thr1382=) rs75346307 0.00173
NM_006766.5(KAT6A):c.4952C>T (p.Pro1651Leu) rs144417514 0.00145
NM_006766.5(KAT6A):c.5994C>T (p.Asn1998=) rs117270099 0.00124
NM_006766.5(KAT6A):c.5259A>G (p.Leu1753=) rs148308447 0.00117
NM_006766.5(KAT6A):c.1134A>G (p.Ser378=) rs147952562 0.00081
NM_006766.5(KAT6A):c.5526G>A (p.Thr1842=) rs146496080 0.00081
NM_006766.5(KAT6A):c.1029G>T (p.Lys343Asn) rs35529154 0.00068
NM_006766.5(KAT6A):c.3561C>T (p.Cys1187=) rs368311389 0.00059
NM_006766.5(KAT6A):c.5967T>C (p.Ala1989=) rs143452263 0.00056
NM_006766.5(KAT6A):c.4956A>G (p.Pro1652=) rs201475966 0.00046
NM_006766.5(KAT6A):c.2226C>T (p.Asp742=) rs143212958 0.00039
NM_006766.5(KAT6A):c.2373A>C (p.Glu791Asp) rs201345009 0.00038
NM_006766.5(KAT6A):c.1185T>G (p.Asp395Glu) rs111806051 0.00036
NM_006766.5(KAT6A):c.5241A>G (p.Pro1747=) rs140894504 0.00036
NM_006766.5(KAT6A):c.2760G>C (p.Leu920=) rs200864330 0.00030
NM_006766.5(KAT6A):c.2533C>T (p.Arg845Cys) rs145797427 0.00024
NM_006766.5(KAT6A):c.3392G>A (p.Arg1131His) rs141610909 0.00024
NM_006766.5(KAT6A):c.4611C>T (p.Ser1537=) rs200721745 0.00023
NM_006766.5(KAT6A):c.1157G>A (p.Arg386Gln) rs140780968 0.00020
NM_006766.5(KAT6A):c.3855G>T (p.Gln1285His) rs112277492 0.00019
NM_006766.5(KAT6A):c.1342A>G (p.Ser448Gly) rs149459548 0.00017
NM_006766.5(KAT6A):c.5730T>C (p.Asn1910=) rs144084994 0.00017
NM_006766.5(KAT6A):c.5185A>T (p.Ile1729Leu) rs140560177 0.00015
NM_006766.5(KAT6A):c.4149C>T (p.Ser1383=) rs35760242 0.00014
NM_006766.5(KAT6A):c.5597C>G (p.Ser1866Cys) rs181712540 0.00014
NM_006766.5(KAT6A):c.600+5G>T rs138578452 0.00014
NM_006766.5(KAT6A):c.603G>A (p.Pro201=) rs148925079 0.00014
NM_006766.5(KAT6A):c.2633G>A (p.Arg878His) rs139942484 0.00010
NM_006766.5(KAT6A):c.3764C>G (p.Ala1255Gly) rs373190705 0.00010
NM_006766.5(KAT6A):c.5740A>G (p.Met1914Val) rs750315709 0.00010
NM_006766.5(KAT6A):c.3802C>T (p.Pro1268Ser) rs769120352 0.00009
NM_006766.5(KAT6A):c.5494A>G (p.Met1832Val) rs781560944 0.00008
NM_006766.5(KAT6A):c.4560C>T (p.Ser1520=) rs370577877 0.00007
NM_006766.5(KAT6A):c.5572C>T (p.Arg1858Cys) rs374807145 0.00007
NM_006766.5(KAT6A):c.2911C>T (p.Arg971Cys) rs146209687 0.00006
NM_006766.5(KAT6A):c.2983G>A (p.Glu995Lys) rs779315883 0.00006
NM_006766.5(KAT6A):c.4503C>T (p.Asn1501=) rs1035776343 0.00006
NM_006766.5(KAT6A):c.4768G>A (p.Gly1590Ser) rs751096264 0.00006
NM_006766.5(KAT6A):c.2672C>T (p.Thr891Met) rs575371774 0.00005
NM_006766.5(KAT6A):c.3833G>A (p.Arg1278His) rs547730885 0.00005
NM_006766.5(KAT6A):c.1065A>T (p.Lys355Asn) rs140126559 0.00004
NM_006766.5(KAT6A):c.2791G>A (p.Gly931Arg) rs779101695 0.00004
NM_006766.5(KAT6A):c.2986A>G (p.Ser996Gly) rs183255462 0.00004
NM_006766.5(KAT6A):c.4988C>T (p.Pro1663Leu) rs755968563 0.00004
NM_006766.5(KAT6A):c.5585C>T (p.Ala1862Val) rs759267222 0.00004
NM_006766.5(KAT6A):c.5921G>A (p.Gly1974Glu) rs374003917 0.00004
NM_006766.5(KAT6A):c.1043T>G (p.Val348Gly) rs764318325 0.00003
NM_006766.5(KAT6A):c.3982A>G (p.Lys1328Glu) rs199709098 0.00003
NM_006766.5(KAT6A):c.502C>T (p.Arg168Trp) rs369777293 0.00003
NM_006766.5(KAT6A):c.5601G>T (p.Ala1867=) rs140666969 0.00003
NM_006766.5(KAT6A):c.3989A>G (p.Lys1330Arg) rs746406926 0.00002
NM_006766.5(KAT6A):c.893C>T (p.Thr298Ile) rs199732997 0.00002
NM_006766.5(KAT6A):c.3010A>G (p.Ile1004Val) rs560767148 0.00001
NM_006766.5(KAT6A):c.3299C>G (p.Ser1100Cys) rs758083988 0.00001
NM_006766.5(KAT6A):c.4210G>A (p.Glu1404Lys) rs1264062552 0.00001
NM_006766.5(KAT6A):c.4520G>T (p.Ser1507Ile) rs1216447981 0.00001
NM_006766.5(KAT6A):c.4767C>T (p.Tyr1589=) rs754428979 0.00001
NM_006766.5(KAT6A):c.4841G>A (p.Ser1614Asn) rs1198819132 0.00001
NM_006766.5(KAT6A):c.5299C>G (p.His1767Asp) rs1821629207 0.00001
NM_006766.5(KAT6A):c.648A>G (p.Lys216=) rs764533676 0.00001
NM_006766.5(KAT6A):c.1003A>G (p.Ile335Val)
NM_006766.5(KAT6A):c.1009C>T (p.Arg337Cys)
NM_006766.5(KAT6A):c.1097G>A (p.Arg366Gln) rs1181854686
NM_006766.5(KAT6A):c.1114A>G (p.Ser372Gly)
NM_006766.5(KAT6A):c.1135T>C (p.Ser379Pro)
NM_006766.5(KAT6A):c.1138_1139inv (p.Glu380Ser)
NM_006766.5(KAT6A):c.1210A>C (p.Lys404Gln)
NM_006766.5(KAT6A):c.121G>A (p.Gly41Ser)
NM_006766.5(KAT6A):c.127G>A (p.Asp43Asn)
NM_006766.5(KAT6A):c.1283G>A (p.Gly428Glu)
NM_006766.5(KAT6A):c.1346C>T (p.Thr449Ile)
NM_006766.5(KAT6A):c.141T>G (p.Val47=)
NM_006766.5(KAT6A):c.142T>G (p.Leu48Val)
NM_006766.5(KAT6A):c.1445T>A (p.Met482Lys) rs138707191
NM_006766.5(KAT6A):c.1462A>G (p.Ile488Val)
NM_006766.5(KAT6A):c.1475C>T (p.Ala492Val)
NM_006766.5(KAT6A):c.1483A>G (p.Lys495Glu)
NM_006766.5(KAT6A):c.1652C>G (p.Thr551Ser)
NM_006766.5(KAT6A):c.1668C>T (p.His556=)
NM_006766.5(KAT6A):c.1681G>A (p.Gly561Ser)
NM_006766.5(KAT6A):c.1688T>A (p.Phe563Tyr)
NM_006766.5(KAT6A):c.1735T>A (p.Phe579Ile)
NM_006766.5(KAT6A):c.1862A>G (p.Asn621Ser)
NM_006766.5(KAT6A):c.1899T>C (p.Ser633=)
NM_006766.5(KAT6A):c.1900A>T (p.Lys634Ter) rs1822469455
NM_006766.5(KAT6A):c.2127del (p.Lys709fs) rs1822257059
NM_006766.5(KAT6A):c.214A>T (p.Lys72Ter)
NM_006766.5(KAT6A):c.2203C>T (p.Arg735Ter)
NM_006766.5(KAT6A):c.2481T>C (p.Tyr827=)
NM_006766.5(KAT6A):c.2486T>C (p.Val829Ala)
NM_006766.5(KAT6A):c.2514G>T (p.Met838Ile)
NM_006766.5(KAT6A):c.2534G>A (p.Arg845His)
NM_006766.5(KAT6A):c.256C>T (p.Arg86Trp)
NM_006766.5(KAT6A):c.2604G>C (p.Trp868Cys)
NM_006766.5(KAT6A):c.2627A>C (p.Gln876Pro) rs537857698
NM_006766.5(KAT6A):c.2632C>T (p.Arg878Cys)
NM_006766.5(KAT6A):c.2764G>A (p.Ala922Thr)
NM_006766.5(KAT6A):c.2790C>G (p.Asp930Glu)
NM_006766.5(KAT6A):c.2803C>T (p.Leu935Phe)
NM_006766.5(KAT6A):c.2818C>A (p.Leu940Ile)
NM_006766.5(KAT6A):c.2828G>A (p.Gly943Glu)
NM_006766.5(KAT6A):c.2915G>C (p.Arg972Pro) rs376411038
NM_006766.5(KAT6A):c.2918A>G (p.Tyr973Cys)
NM_006766.5(KAT6A):c.2941C>T (p.Leu981Phe)
NM_006766.5(KAT6A):c.2948G>T (p.Gly983Val)
NM_006766.5(KAT6A):c.2993G>A (p.Arg998Gln)
NM_006766.5(KAT6A):c.3040-1G>T rs1821915703
NM_006766.5(KAT6A):c.3086A>G (p.His1029Arg)
NM_006766.5(KAT6A):c.3116_3117del (p.Ile1038_Ser1039insTer) rs786200959
NM_006766.5(KAT6A):c.314G>A (p.Arg105Gln)
NM_006766.5(KAT6A):c.3260G>A (p.Arg1087His)
NM_006766.5(KAT6A):c.3269C>T (p.Ser1090Leu)
NM_006766.5(KAT6A):c.3271C>A (p.Gln1091Lys)
NM_006766.5(KAT6A):c.3272A>C (p.Gln1091Pro)
NM_006766.5(KAT6A):c.3286dup (p.Cys1096fs) rs1821898026
NM_006766.5(KAT6A):c.3321AGA[2] (p.Glu1109del) rs3837198
NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter) rs786200960
NM_006766.5(KAT6A):c.3395_3396del (p.Asp1132fs) rs1821770366
NM_006766.5(KAT6A):c.3414T>C (p.Leu1138=)
NM_006766.5(KAT6A):c.3469A>G (p.Ser1157Gly)
NM_006766.5(KAT6A):c.3529C>T (p.Arg1177Trp)
NM_006766.5(KAT6A):c.3576C>T (p.Ile1192=) rs61753682
NM_006766.5(KAT6A):c.3598C>T (p.Arg1200Cys)
NM_006766.5(KAT6A):c.3599G>A (p.Arg1200His)
NM_006766.5(KAT6A):c.3692del (p.Ala1231fs) rs1821750171
NM_006766.5(KAT6A):c.3717T>A (p.Gly1239=)
NM_006766.5(KAT6A):c.3736A>T (p.Ser1246Cys)
NM_006766.5(KAT6A):c.3747_3758del (p.Ala1252_Ala1255del)
NM_006766.5(KAT6A):c.3837C>T (p.Val1279=)
NM_006766.5(KAT6A):c.389A>G (p.Asp130Gly)
NM_006766.5(KAT6A):c.3928C>T (p.Gln1310Ter) rs777592513
NM_006766.5(KAT6A):c.4050T>G (p.Ser1350=)
NM_006766.5(KAT6A):c.4066A>G (p.Met1356Val)
NM_006766.5(KAT6A):c.4154T>C (p.Val1385Ala)
NM_006766.5(KAT6A):c.4188C>G (p.His1396Gln) rs780955932
NM_006766.5(KAT6A):c.4223A>C (p.Glu1408Ala)
NM_006766.5(KAT6A):c.4228_4232del (p.Lys1410fs) rs1554679889
NM_006766.5(KAT6A):c.4235A>G (p.Glu1412Gly) rs1564004878
NM_006766.5(KAT6A):c.4242G>C (p.Glu1414Asp)
NM_006766.5(KAT6A):c.4292dup (p.Leu1431fs) rs786200956
NM_006766.5(KAT6A):c.4297C>T (p.Gln1433Ter)
NM_006766.5(KAT6A):c.4308C>T (p.Ser1436=) rs750902324
NM_006766.5(KAT6A):c.442C>T (p.Arg148Ter) rs759900272
NM_006766.5(KAT6A):c.4443C>A (p.Ser1481Arg)
NM_006766.5(KAT6A):c.4456G>A (p.Val1486Ile)
NM_006766.5(KAT6A):c.452T>C (p.Ile151Thr)
NM_006766.5(KAT6A):c.4543G>C (p.Glu1515Gln)
NM_006766.5(KAT6A):c.4594A>T (p.Met1532Leu) rs1476341397
NM_006766.5(KAT6A):c.464T>C (p.Ile155Thr)
NM_006766.5(KAT6A):c.4655A>C (p.Asp1552Ala)
NM_006766.5(KAT6A):c.4677C>T (p.Thr1559=)
NM_006766.5(KAT6A):c.4697C>G (p.Pro1566Arg) rs1821675856
NM_006766.5(KAT6A):c.4723G>A (p.Gly1575Ser)
NM_006766.5(KAT6A):c.4724G>T (p.Gly1575Val)
NM_006766.5(KAT6A):c.4775T>A (p.Leu1592Gln)
NM_006766.5(KAT6A):c.4776GTC[1] (p.Ser1597del) rs779024326
NM_006766.5(KAT6A):c.4795A>T (p.Thr1599Ser)
NM_006766.5(KAT6A):c.4801A>G (p.Ser1601Gly)
NM_006766.5(KAT6A):c.4882G>A (p.Ala1628Thr)
NM_006766.5(KAT6A):c.4915G>A (p.Val1639Met)
NM_006766.5(KAT6A):c.4933A>G (p.Ser1645Gly)
NM_006766.5(KAT6A):c.4940AGC[5] (p.Gln1650dup) rs542184116
NM_006766.5(KAT6A):c.4953G>A (p.Pro1651=)
NM_006766.5(KAT6A):c.4953_4976del (p.Pro1652_Pro1659del) rs779701073
NM_006766.5(KAT6A):c.4968_4982dup (p.Gln1657_Pro1661dup) rs750049486
NM_006766.5(KAT6A):c.5019A>G (p.Pro1673=) rs1564003490
NM_006766.5(KAT6A):c.5019ACC[3] (p.Pro1675dup) rs758188280
NM_006766.5(KAT6A):c.5020C>G (p.Pro1674Ala)
NM_006766.5(KAT6A):c.5028_5039dup (p.Gln1684_Pro1685insGlnGlnProGln)
NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1]) rs548231613
NM_006766.5(KAT6A):c.5064G>A (p.Gln1688=)
NM_006766.5(KAT6A):c.5068C>T (p.Pro1690Ser)
NM_006766.5(KAT6A):c.5208A>G (p.Pro1736=)
NM_006766.5(KAT6A):c.5211G>A (p.Gly1737=)
NM_006766.5(KAT6A):c.5224G>A (p.Gly1742Ser)
NM_006766.5(KAT6A):c.5330T>C (p.Val1777Ala)
NM_006766.5(KAT6A):c.5383G>A (p.Ala1795Thr)
NM_006766.5(KAT6A):c.5395C>G (p.Pro1799Ala)
NM_006766.5(KAT6A):c.545G>A (p.Cys182Tyr)
NM_006766.5(KAT6A):c.553C>G (p.Leu185Val)
NM_006766.5(KAT6A):c.5596T>C (p.Ser1866Pro)
NM_006766.5(KAT6A):c.5600C>T (p.Ala1867Val)
NM_006766.5(KAT6A):c.5601G>A (p.Ala1867=) rs140666969
NM_006766.5(KAT6A):c.5668G>A (p.Ala1890Thr) rs766320012
NM_006766.5(KAT6A):c.5693A>G (p.Asn1898Ser)
NM_006766.5(KAT6A):c.569C>T (p.Pro190Leu)
NM_006766.5(KAT6A):c.5763C>T (p.Ala1921=)
NM_006766.5(KAT6A):c.5764A>G (p.Met1922Val)
NM_006766.5(KAT6A):c.5770A>G (p.Ser1924Gly)
NM_006766.5(KAT6A):c.5771G>A (p.Ser1924Asn)
NM_006766.5(KAT6A):c.5791A>G (p.Met1931Val)
NM_006766.5(KAT6A):c.5810A>G (p.His1937Arg)
NM_006766.5(KAT6A):c.5812A>G (p.Ser1938Gly)
NM_006766.5(KAT6A):c.5866G>A (p.Gly1956Arg)
NM_006766.5(KAT6A):c.5940C>A (p.Gly1980=)
NM_006766.5(KAT6A):c.5984A>G (p.Gln1995Arg)
NM_006766.5(KAT6A):c.5995G>A (p.Gly1999Arg)
NM_006766.5(KAT6A):c.6004A>G (p.Met2002Val)
NM_006766.5(KAT6A):c.601-4A>G
NM_006766.5(KAT6A):c.658C>T (p.Arg220Ter) rs1395351821
NM_006766.5(KAT6A):c.806G>A (p.Arg269Gln)
NM_006766.5(KAT6A):c.903A>G (p.Pro301=)

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