ClinVar Miner

List of variants in gene KAT6A reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 69
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HGVS dbSNP gnomAD frequency
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.1599-9C>T rs74337152 0.00424
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.336G>C (p.Glu112Asp) rs138399992 0.00121
NM_006766.5(KAT6A):c.5526G>A (p.Thr1842=) rs146496080 0.00081
NM_006766.5(KAT6A):c.4956A>G (p.Pro1652=) rs201475966 0.00046
NM_006766.5(KAT6A):c.2533C>T (p.Arg845Cys) rs145797427 0.00024
NM_006766.5(KAT6A):c.4611C>T (p.Ser1537=) rs200721745 0.00023
NM_006766.5(KAT6A):c.4779G>A (p.Ser1593=) rs149912064 0.00022
NM_006766.5(KAT6A):c.1157G>A (p.Arg386Gln) rs140780968 0.00020
NM_006766.5(KAT6A):c.5730T>C (p.Asn1910=) rs144084994 0.00017
NM_006766.5(KAT6A):c.5597C>G (p.Ser1866Cys) rs181712540 0.00014
NM_006766.5(KAT6A):c.603G>A (p.Pro201=) rs148925079 0.00014
NM_006766.5(KAT6A):c.5740A>G (p.Met1914Val) rs750315709 0.00010
NM_006766.5(KAT6A):c.4560C>T (p.Ser1520=) rs370577877 0.00007
NM_006766.5(KAT6A):c.2983G>A (p.Glu995Lys) rs779315883 0.00006
NM_006766.5(KAT6A):c.4988C>T (p.Pro1663Leu) rs755968563 0.00004
NM_006766.5(KAT6A):c.4150G>A (p.Val1384Met) rs752818339 0.00003
NM_006766.5(KAT6A):c.5339A>G (p.Tyr1780Cys) rs61753681 0.00003
NM_006766.5(KAT6A):c.107T>C (p.Val36Ala) rs367773799 0.00002
NM_006766.5(KAT6A):c.4512C>T (p.Ala1504=) rs375447531 0.00002
NM_006766.5(KAT6A):c.3299C>G (p.Ser1100Cys) rs758083988 0.00001
NM_006766.5(KAT6A):c.4058A>G (p.Asp1353Gly) rs764284203 0.00001
NM_006766.5(KAT6A):c.5630G>A (p.Arg1877His) rs1308362424 0.00001
NM_006766.5(KAT6A):c.1131A>G (p.Ser377=)
NM_006766.5(KAT6A):c.1229T>C (p.Ile410Thr)
NM_006766.5(KAT6A):c.1302_1303del (p.Glu435fs)
NM_006766.5(KAT6A):c.1343G>A (p.Ser448Asn)
NM_006766.5(KAT6A):c.1445T>A (p.Met482Lys) rs138707191
NM_006766.5(KAT6A):c.1736T>G (p.Phe579Cys) rs2150867525
NM_006766.5(KAT6A):c.1997-6C>T rs1564013075
NM_006766.5(KAT6A):c.2007del (p.Leu669fs) rs1564013046
NM_006766.5(KAT6A):c.26A>G (p.Tyr9Cys) rs2150932978
NM_006766.5(KAT6A):c.279T>C (p.Asn93=)
NM_006766.5(KAT6A):c.2864C>T (p.Pro955Leu) rs761588463
NM_006766.5(KAT6A):c.2869G>C (p.Ala957Pro) rs374802138
NM_006766.5(KAT6A):c.2914C>T (p.Arg972Cys)
NM_006766.5(KAT6A):c.296G>A (p.Trp99Ter) rs1554702654
NM_006766.5(KAT6A):c.2978A>C (p.Glu993Ala)
NM_006766.5(KAT6A):c.3039+1G>T rs1554681382
NM_006766.5(KAT6A):c.3040-9_3040-8del rs1554680912
NM_006766.5(KAT6A):c.3070C>T (p.Arg1024Ter) rs786200961
NM_006766.5(KAT6A):c.3086A>G (p.His1029Arg)
NM_006766.5(KAT6A):c.3202G>A (p.Asp1068Asn) rs187168141
NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter) rs786200960
NM_006766.5(KAT6A):c.3412C>T (p.Leu1138Phe) rs1821769106
NM_006766.5(KAT6A):c.3485A>T (p.His1162Leu) rs1821764895
NM_006766.5(KAT6A):c.3661G>A (p.Glu1221Lys)
NM_006766.5(KAT6A):c.3739A>C (p.Ser1247Arg)
NM_006766.5(KAT6A):c.3859GAG[2] (p.Glu1289del) rs747034971
NM_006766.5(KAT6A):c.3915T>C (p.Ala1305=)
NM_006766.5(KAT6A):c.4085del (p.Lys1362fs) rs2150856458
NM_006766.5(KAT6A):c.4420T>A (p.Cys1474Ser) rs1821692071
NM_006766.5(KAT6A):c.4644C>T (p.Ser1548=)
NM_006766.5(KAT6A):c.4688A>T (p.Tyr1563Phe) rs1821676544
NM_006766.5(KAT6A):c.4746T>G (p.Ser1582=)
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.5009C>A (p.Pro1670Gln) rs765421683
NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1]) rs548231613
NM_006766.5(KAT6A):c.5270A>G (p.Gln1757Arg) rs1821630800
NM_006766.5(KAT6A):c.5313T>C (p.Tyr1771=)
NM_006766.5(KAT6A):c.5406G>T (p.Gly1802=)
NM_006766.5(KAT6A):c.5600C>T (p.Ala1867Val)

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