ClinVar Miner

List of variants in gene KAT6B studied for Inborn genetic diseases

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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_012330.4(KAT6B):c.5749A>G (p.Ile1917Val) rs199662367 0.00024
NM_012330.4(KAT6B):c.4211G>A (p.Arg1404His) rs563033366 0.00021
NM_012330.4(KAT6B):c.2833C>T (p.Leu945Phe) rs200018142 0.00014
NM_012330.4(KAT6B):c.3410G>A (p.Arg1137His) rs143090869 0.00010
NM_012330.4(KAT6B):c.4760C>T (p.Thr1587Met) rs145636342 0.00009
NM_012330.4(KAT6B):c.4478C>T (p.Ala1493Val) rs369068910 0.00007
NM_012330.4(KAT6B):c.3697G>A (p.Glu1233Lys) rs371178186 0.00006
NM_012330.4(KAT6B):c.1798C>T (p.His600Tyr) rs187153114 0.00004
NM_012330.4(KAT6B):c.4523C>A (p.Pro1508Gln) rs1014954135 0.00004
NM_012330.4(KAT6B):c.1688C>T (p.Pro563Leu) rs770143760 0.00003
NM_012330.4(KAT6B):c.1865G>A (p.Arg622Gln) rs773318837 0.00001
NM_012330.4(KAT6B):c.2014A>G (p.Ile672Val) rs757770040 0.00001
NM_012330.4(KAT6B):c.3109G>A (p.Ala1037Thr) rs754306389 0.00001
NM_012330.4(KAT6B):c.4271A>G (p.His1424Arg) rs529353814 0.00001
NM_012330.4(KAT6B):c.4570G>A (p.Asp1524Asn) rs545973592 0.00001
NM_012330.4(KAT6B):c.4656C>G (p.Ser1552Arg) rs768290031 0.00001
NM_012330.4(KAT6B):c.5692C>T (p.Arg1898Trp) rs1846234095 0.00001
NM_012330.4(KAT6B):c.679C>T (p.Arg227Cys) rs749252195 0.00001
NM_012330.4(KAT6B):c.1087A>G (p.Met363Val)
NM_012330.4(KAT6B):c.1247C>T (p.Thr416Ile)
NM_012330.4(KAT6B):c.1929G>A (p.Met643Ile)
NM_012330.4(KAT6B):c.2062G>A (p.Val688Ile)
NM_012330.4(KAT6B):c.2611C>T (p.Arg871Trp)
NM_012330.4(KAT6B):c.2616del (p.Leu873fs)
NM_012330.4(KAT6B):c.2719A>G (p.Lys907Glu)
NM_012330.4(KAT6B):c.2725G>A (p.Val909Ile)
NM_012330.4(KAT6B):c.279G>C (p.Lys93Asn)
NM_012330.4(KAT6B):c.2845G>A (p.Asp949Asn)
NM_012330.4(KAT6B):c.2920T>C (p.Cys974Arg)
NM_012330.4(KAT6B):c.304C>A (p.Leu102Ile)
NM_012330.4(KAT6B):c.3264dup (p.Glu1089fs) rs869312962
NM_012330.4(KAT6B):c.3282AGA[1] (p.Glu1104del)
NM_012330.4(KAT6B):c.3312_3314del (p.Glu1104_Asn1105delinsAsp)
NM_012330.4(KAT6B):c.3344A>C (p.Lys1115Thr)
NM_012330.4(KAT6B):c.3373-2A>C
NM_012330.4(KAT6B):c.3376C>A (p.Pro1126Thr)
NM_012330.4(KAT6B):c.3404G>A (p.Arg1135His) rs138617006
NM_012330.4(KAT6B):c.3543G>C (p.Glu1181Asp)
NM_012330.4(KAT6B):c.3560C>T (p.Pro1187Leu)
NM_012330.4(KAT6B):c.3664+4_3664+7del rs1845730108
NM_012330.4(KAT6B):c.3737A>G (p.Gln1246Arg)
NM_012330.4(KAT6B):c.3740T>C (p.Val1247Ala)
NM_012330.4(KAT6B):c.3769_3772del (p.Lys1258fs) rs199470470
NM_012330.4(KAT6B):c.3788_3789del (p.Lys1263fs) rs199470472
NM_012330.4(KAT6B):c.3988T>A (p.Cys1330Ser)
NM_012330.4(KAT6B):c.4051G>A (p.Glu1351Lys)
NM_012330.4(KAT6B):c.4065GGA[4] (p.Glu1368del) rs367634881
NM_012330.4(KAT6B):c.4079AAGAGGAAG[4] (p.Glu1366_Glu1368dup) rs375513122
NM_012330.4(KAT6B):c.4102dup (p.Glu1368fs) rs1554845598
NM_012330.4(KAT6B):c.4123G>C (p.Gly1375Arg)
NM_012330.4(KAT6B):c.4205_4206del (p.Ser1402fs) rs199470477
NM_012330.4(KAT6B):c.427A>G (p.Thr143Ala)
NM_012330.4(KAT6B):c.4514A>G (p.Glu1505Gly) rs2134241318
NM_012330.4(KAT6B):c.4726_4729dup (p.Arg1577fs) rs1846150514
NM_012330.4(KAT6B):c.4750A>G (p.Ile1584Val)
NM_012330.4(KAT6B):c.5065A>G (p.Thr1689Ala)
NM_012330.4(KAT6B):c.5252C>T (p.Pro1751Leu)
NM_012330.4(KAT6B):c.5333C>G (p.Pro1778Arg)
NM_012330.4(KAT6B):c.5371A>G (p.Asn1791Asp)
NM_012330.4(KAT6B):c.5615C>A (p.Pro1872His)
NM_012330.4(KAT6B):c.5623C>A (p.Gln1875Lys)
NM_012330.4(KAT6B):c.5813C>G (p.Thr1938Ser)
NM_012330.4(KAT6B):c.5933A>G (p.Asn1978Ser)
NM_012330.4(KAT6B):c.5984A>C (p.Tyr1995Ser)
NM_012330.4(KAT6B):c.6010A>G (p.Ser2004Gly)
NM_012330.4(KAT6B):c.966G>C (p.Lys322Asn)

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