ClinVar Miner

List of variants in gene KAT6A studied for syndromic craniosynostosis

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 144
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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.1599-9C>T rs74337152 0.00424
NM_006766.5(KAT6A):c.4952C>T (p.Pro1651Leu) rs144417514 0.00145
NM_006766.5(KAT6A):c.3561C>T (p.Cys1187=) rs368311389 0.00059
NM_006766.5(KAT6A):c.600+5G>T rs138578452 0.00014
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.2791G>A (p.Gly931Arg) rs779101695 0.00004
NM_006766.5(KAT6A):c.2843G>A (p.Arg948Gln) rs200762586 0.00002
NM_006766.5(KAT6A):c.893C>T (p.Thr298Ile) rs199732997 0.00002
NM_006766.5(KAT6A):c.2989C>T (p.Pro997Ser) rs1044282559 0.00001
NM_006766.5(KAT6A):c.5299C>G (p.His1767Asp) rs1821629207 0.00001
NM_006766.5(KAT6A):c.5776C>G (p.Arg1926Gly) rs900174205 0.00001
NM_006766.5(KAT6A):c.766C>T (p.Arg256Trp) rs1296782375 0.00001
NM_006766.5(KAT6A):c.1039_1040del (p.Thr347fs)
NM_006766.5(KAT6A):c.1040C>T (p.Thr347Met)
NM_006766.5(KAT6A):c.1133C>G (p.Ser378Ter) rs2150886525
NM_006766.5(KAT6A):c.1146_1147insG (p.Tyr383fs) rs2150886504
NM_006766.5(KAT6A):c.1210A>G (p.Lys404Glu)
NM_006766.5(KAT6A):c.1312C>T (p.Arg438Ter) rs2150886359
NM_006766.5(KAT6A):c.1405C>T (p.Arg469Ter) rs2150884950
NM_006766.5(KAT6A):c.1481A>G (p.Gln494Arg)
NM_006766.5(KAT6A):c.152T>C (p.Leu51Ser)
NM_006766.5(KAT6A):c.1663del (p.Gln555fs) rs1822554467
NM_006766.5(KAT6A):c.1903-5_1903-2del rs1587727050
NM_006766.5(KAT6A):c.1907_1908del (p.Lys636fs)
NM_006766.5(KAT6A):c.1928A>G (p.Asn643Ser) rs1822412202
NM_006766.5(KAT6A):c.2135G>A (p.Ser712Asn) rs2150863487
NM_006766.5(KAT6A):c.2217C>G (p.Phe739Leu)
NM_006766.5(KAT6A):c.2218del (p.Arg740fs) rs1587723169
NM_006766.5(KAT6A):c.2228A>G (p.Gln743Arg)
NM_006766.5(KAT6A):c.2242C>T (p.Arg748Cys)
NM_006766.5(KAT6A):c.2378del (p.Glu793fs)
NM_006766.5(KAT6A):c.2463del (p.Asn821fs) rs1661324893
NM_006766.5(KAT6A):c.2525del (p.Ser842fs)
NM_006766.5(KAT6A):c.254C>T (p.Pro85Leu) rs2150932891
NM_006766.5(KAT6A):c.265G>A (p.Gly89Arg)
NM_006766.5(KAT6A):c.2696A>G (p.Tyr899Cys) rs745933378
NM_006766.5(KAT6A):c.2734C>T (p.Gln912Ter)
NM_006766.5(KAT6A):c.2842C>T (p.Arg948Ter) rs1211232252
NM_006766.5(KAT6A):c.2927del (p.Gly976fs)
NM_006766.5(KAT6A):c.2947G>T (p.Gly983Cys) rs1822089938
NM_006766.5(KAT6A):c.2980C>T (p.Pro994Ser)
NM_006766.5(KAT6A):c.3034C>T (p.Arg1012Ter) rs768856558
NM_006766.5(KAT6A):c.3039+1G>A rs1554681382
NM_006766.5(KAT6A):c.3055C>T (p.Arg1019Ter) rs1554680902
NM_006766.5(KAT6A):c.3061dup (p.Arg1021fs)
NM_006766.5(KAT6A):c.3070C>T (p.Arg1024Ter) rs786200961
NM_006766.5(KAT6A):c.3116_3117del (p.Ile1038_Ser1039insTer) rs786200959
NM_006766.5(KAT6A):c.3234A>C (p.Glu1078Asp)
NM_006766.5(KAT6A):c.3264G>T (p.Leu1088Phe) rs978156504
NM_006766.5(KAT6A):c.3306del (p.Lys1103fs) rs1587713892
NM_006766.5(KAT6A):c.3316G>A (p.Asp1106Asn)
NM_006766.5(KAT6A):c.3318_3319insCT (p.Glu1107fs) rs1587713866
NM_006766.5(KAT6A):c.3344_3350del (p.Asp1115fs)
NM_006766.5(KAT6A):c.3377del (p.Ser1126fs)
NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter) rs786200960
NM_006766.5(KAT6A):c.3386G>A (p.Arg1129Gln)
NM_006766.5(KAT6A):c.3399_3400dup (p.Lys1134fs)
NM_006766.5(KAT6A):c.3443del (p.Lys1148fs) rs1554680245
NM_006766.5(KAT6A):c.3505C>T (p.Arg1169Ter) rs886042000
NM_006766.5(KAT6A):c.3510A>C (p.Lys1170Asn)
NM_006766.5(KAT6A):c.3596del (p.Gly1199fs) rs1554680188
NM_006766.5(KAT6A):c.3629C>A (p.Thr1210Asn)
NM_006766.5(KAT6A):c.3631_3632del (p.Thr1210_Val1211insTer)
NM_006766.5(KAT6A):c.3661G>T (p.Glu1221Ter) rs139494583
NM_006766.5(KAT6A):c.3670_3672del (p.Lys1224del)
NM_006766.5(KAT6A):c.3721del (p.Glu1241fs)
NM_006766.5(KAT6A):c.376A>T (p.Lys126Ter) rs755669455
NM_006766.5(KAT6A):c.3775A>G (p.Asn1259Asp) rs1240578716
NM_006766.5(KAT6A):c.3778A>G (p.Ser1260Gly) rs774544767
NM_006766.5(KAT6A):c.379G>C (p.Gly127Arg)
NM_006766.5(KAT6A):c.3820G>T (p.Glu1274Ter)
NM_006766.5(KAT6A):c.3824_3828del (p.Glu1275fs)
NM_006766.5(KAT6A):c.3879dup (p.Glu1294fs) rs786200952
NM_006766.5(KAT6A):c.3887dup (p.Glu1297fs)
NM_006766.5(KAT6A):c.3898dup (p.Glu1300fs)
NM_006766.5(KAT6A):c.3921_3922del (p.Glu1307fs) rs2150856658
NM_006766.5(KAT6A):c.4038del (p.Val1347fs) rs1564005155
NM_006766.5(KAT6A):c.4070del (p.Gln1357fs) rs1821721248
NM_006766.5(KAT6A):c.4108G>T (p.Glu1370Ter) rs138944476
NM_006766.5(KAT6A):c.4228_4232del (p.Lys1410fs) rs1554679889
NM_006766.5(KAT6A):c.4229_4230del (p.Lys1410fs)
NM_006766.5(KAT6A):c.4254_4257del (p.Glu1419fs) rs1057516049
NM_006766.5(KAT6A):c.4297C>T (p.Gln1433Ter)
NM_006766.5(KAT6A):c.4348_4349del (p.Leu1450fs)
NM_006766.5(KAT6A):c.4373G>A (p.Ser1458Asn)
NM_006766.5(KAT6A):c.4398_4399del (p.Gln1467fs) rs2150856163
NM_006766.5(KAT6A):c.441dup (p.Arg148fs)
NM_006766.5(KAT6A):c.4445C>T (p.Pro1482Leu) rs1821690064
NM_006766.5(KAT6A):c.4528A>G (p.Thr1510Ala)
NM_006766.5(KAT6A):c.4533G>C (p.Gln1511His)
NM_006766.5(KAT6A):c.4598T>C (p.Met1533Thr) rs1821679735
NM_006766.5(KAT6A):c.4625C>T (p.Ser1542Phe)
NM_006766.5(KAT6A):c.4643G>A (p.Ser1548Asn)
NM_006766.5(KAT6A):c.4645G>A (p.Gly1549Ser) rs1064794000
NM_006766.5(KAT6A):c.4664G>A (p.Ser1555Asn) rs1821677301
NM_006766.5(KAT6A):c.4666A>T (p.Ile1556Phe) rs1821677152
NM_006766.5(KAT6A):c.4667T>C (p.Ile1556Thr)
NM_006766.5(KAT6A):c.4688_4689del (p.Asn1562_Tyr1563insTer) rs1554679726
NM_006766.5(KAT6A):c.4707C>A (p.Tyr1569Ter)
NM_006766.5(KAT6A):c.4759T>G (p.Cys1587Gly) rs2150855850
NM_006766.5(KAT6A):c.4768G>C (p.Gly1590Arg)
NM_006766.5(KAT6A):c.4776GTC[1] (p.Ser1597del) rs779024326
NM_006766.5(KAT6A):c.4825A>G (p.Met1609Val)
NM_006766.5(KAT6A):c.4861C>T (p.Gln1621Ter) rs2150855722
NM_006766.5(KAT6A):c.4898A>G (p.Lys1633Arg)
NM_006766.5(KAT6A):c.4945C>T (p.Gln1649Ter) rs1821661078
NM_006766.5(KAT6A):c.4960C>A (p.Pro1654Thr) rs1264564304
NM_006766.5(KAT6A):c.4980del (p.Gln1660fs)
NM_006766.5(KAT6A):c.5001_5012dup (p.Ala1669_Pro1672dup) rs2150855509
NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1]) rs548231613
NM_006766.5(KAT6A):c.50T>C (p.Ile17Thr)
NM_006766.5(KAT6A):c.5123del (p.Asn1708fs) rs2150855326
NM_006766.5(KAT6A):c.5161_5165del (p.Pro1721fs)
NM_006766.5(KAT6A):c.5207C>T (p.Pro1736Leu) rs867327550
NM_006766.5(KAT6A):c.5235dup (p.Gln1746fs)
NM_006766.5(KAT6A):c.5287A>G (p.Ile1763Val) rs1821630087
NM_006766.5(KAT6A):c.5383G>A (p.Ala1795Thr)
NM_006766.5(KAT6A):c.5505_5506del (p.Asn1836fs)
NM_006766.5(KAT6A):c.5525C>G (p.Thr1842Arg) rs886037914
NM_006766.5(KAT6A):c.5548C>T (p.Pro1850Ser)
NM_006766.5(KAT6A):c.5560C>T (p.His1854Tyr) rs1587706129
NM_006766.5(KAT6A):c.5575T>A (p.Ser1859Thr)
NM_006766.5(KAT6A):c.5600C>G (p.Ala1867Gly)
NM_006766.5(KAT6A):c.5705A>G (p.Asn1902Ser)
NM_006766.5(KAT6A):c.5736T>G (p.Asn1912Lys) rs758279337
NM_006766.5(KAT6A):c.5884G>A (p.Ala1962Thr)
NM_006766.5(KAT6A):c.5924A>G (p.Asn1975Ser)
NM_006766.5(KAT6A):c.593A>C (p.Lys198Thr)
NM_006766.5(KAT6A):c.5961G>A (p.Met1987Ile)
NM_006766.5(KAT6A):c.658C>T (p.Arg220Ter) rs1395351821
NM_006766.5(KAT6A):c.710-3T>C
NM_006766.5(KAT6A):c.752G>A (p.Arg251Gln) rs1824373842
NM_006766.5(KAT6A):c.772C>T (p.Gln258Ter)
NM_006766.5(KAT6A):c.805C>T (p.Arg269Ter) rs1564039543
NM_006766.5(KAT6A):c.806G>A (p.Arg269Gln)
NM_006766.5(KAT6A):c.830A>G (p.Asn277Ser)
NM_006766.5(KAT6A):c.856C>T (p.Arg286Ter) rs1564038539
NM_006766.5(KAT6A):c.895C>T (p.Arg299Cys)
NM_006766.5(KAT6A):c.907+1del rs1564038389
NM_006766.5(KAT6A):c.931C>T (p.Arg311Ter) rs1064793721
NM_006766.5(KAT6A):c.949C>T (p.Arg317Ter) rs1554688879
NM_006766.5:c.3411del rs2150857178

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