ClinVar Miner

List of variants in gene KAT6B reported as likely benign by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_012330.4(KAT6B):c.2231+9A>G rs201260397 0.00101
NM_012330.4(KAT6B):c.1468C>T (p.Pro490Ser) rs141930257 0.00046
NM_012330.4(KAT6B):c.4633G>A (p.Val1545Ile) rs145158232 0.00033
NM_012330.4(KAT6B):c.4141G>C (p.Asp1381His) rs376231865 0.00031
NM_012330.4(KAT6B):c.5355C>T (p.Pro1785=) rs138711901 0.00024
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.1512C>A (p.Ser504Arg) rs769903041 0.00019
NM_012330.4(KAT6B):c.2448G>A (p.Thr816=) rs372149429 0.00017
NM_012330.4(KAT6B):c.5679G>A (p.Pro1893=) rs370977553 0.00011
NM_012330.4(KAT6B):c.3337T>C (p.Leu1113=) rs751986009 0.00010
NM_012330.4(KAT6B):c.3255A>G (p.Glu1085=) rs933289359 0.00009
NM_012330.4(KAT6B):c.3258A>C (p.Glu1086Asp) rs754680177 0.00009
NM_012330.4(KAT6B):c.4776A>G (p.Gln1592=) rs148492740 0.00007
NM_012330.4(KAT6B):c.3957G>T (p.Leu1319Phe) rs150339818 0.00006
NM_012330.4(KAT6B):c.5967C>T (p.Leu1989=) rs373882553 0.00006
NM_012330.4(KAT6B):c.846+16G>A rs374506959 0.00006
NM_012330.4(KAT6B):c.1565C>A (p.Ser522Tyr) rs200852439 0.00005
NM_012330.4(KAT6B):c.1798C>T (p.His600Tyr) rs187153114 0.00004
NM_012330.4(KAT6B):c.6054A>G (p.Gln2018=) rs1446331653 0.00004
NM_012330.4(KAT6B):c.6153C>T (p.Pro2051=) rs544887456 0.00004
NM_012330.4(KAT6B):c.1654A>G (p.Thr552Ala) rs373962168 0.00001
NM_012330.4(KAT6B):c.5112C>T (p.Cys1704=) rs767983250 0.00001
NM_012330.4(KAT6B):c.1062-16C>G rs886038587
NM_012330.4(KAT6B):c.1485A>G (p.Pro495=)
NM_012330.4(KAT6B):c.1584G>A (p.Val528=)
NM_012330.4(KAT6B):c.1887C>T (p.His629=) rs886038588
NM_012330.4(KAT6B):c.2490A>G (p.Thr830=)
NM_012330.4(KAT6B):c.3276GGA[1] (p.Glu1104del)
NM_012330.4(KAT6B):c.3289GAA[9] (p.Glu1104dup) rs71929101
NM_012330.4(KAT6B):c.3341C>T (p.Thr1114Met) rs755451488
NM_012330.4(KAT6B):c.3665-14G>A
NM_012330.4(KAT6B):c.3665-20G>A
NM_012330.4(KAT6B):c.3717C>G (p.Pro1239=) rs147746065
NM_012330.4(KAT6B):c.4065GGA[3] (p.Glu1367_Glu1368del) rs367634881
NM_012330.4(KAT6B):c.4065GGA[4] (p.Glu1368del) rs367634881
NM_012330.4(KAT6B):c.4092_4094del (p.Glu1368del) rs886038593
NM_012330.4(KAT6B):c.4109AAG[5] (p.Glu1373dup) rs751483850
NM_012330.4(KAT6B):c.4437C>T (p.Val1479=)
NM_012330.4(KAT6B):c.4737C>T (p.Asp1579=)
NM_012330.4(KAT6B):c.4956C>T (p.Val1652=)
NM_012330.4(KAT6B):c.5169G>A (p.Gln1723=)
NM_012330.4(KAT6B):c.582G>A (p.Ser194=)
NM_012330.4(KAT6B):c.858T>C (p.Leu286=) rs886038596

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