ClinVar Miner

List of variants in gene KAT6B reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_012330.4(KAT6B):c.2630-218C>T rs2242012 0.02558
NM_012330.4(KAT6B):c.621+55G>A rs138782403 0.01078
NM_012330.4(KAT6B):c.3373-149C>T rs117014352 0.01022
NM_012330.4(KAT6B):c.2629+275A>G rs149611671 0.00773
NM_012330.4(KAT6B):c.2861+27C>T rs118021194 0.00720
NM_012330.4(KAT6B):c.1993+194T>G rs114904620 0.00701
NM_012330.4(KAT6B):c.*230A>G rs12263058 0.00670
NM_012330.4(KAT6B):c.3664+211G>A rs114973087 0.00668
NM_012330.4(KAT6B):c.1062-189_1062-188dup rs528309876 0.00421
NM_012330.4(KAT6B):c.929-151A>C rs149299216 0.00317
NM_012330.4(KAT6B):c.1663G>A (p.Gly555Arg) rs146395020 0.00054
NM_012330.4(KAT6B):c.2536-26A>G rs202184627 0.00037
NM_012330.4(KAT6B):c.2374-10T>C rs376833457 0.00034
NM_012330.4(KAT6B):c.4633G>A (p.Val1545Ile) rs145158232 0.00033
NM_012330.4(KAT6B):c.4211G>A (p.Arg1404His) rs563033366 0.00021
NM_012330.4(KAT6B):c.1268C>G (p.Ser423Cys) rs770325540 0.00019
NM_012330.4(KAT6B):c.1512C>A (p.Ser504Arg) rs769903041 0.00019
NM_012330.4(KAT6B):c.3828G>A (p.Pro1276=) rs141935235 0.00019
NM_012330.4(KAT6B):c.2448G>A (p.Thr816=) rs372149429 0.00017
NM_012330.4(KAT6B):c.3028C>T (p.Arg1010Trp) rs142309185 0.00016
NM_012330.4(KAT6B):c.1994-20C>T rs373239366 0.00014
NM_012330.4(KAT6B):c.2833C>T (p.Leu945Phe) rs200018142 0.00014
NM_012330.4(KAT6B):c.4659C>T (p.Ser1553=) rs147158118 0.00014
NM_012330.4(KAT6B):c.3652G>C (p.Asp1218His) rs375059527 0.00011
NM_012330.4(KAT6B):c.5679G>A (p.Pro1893=) rs370977553 0.00011
NM_012330.4(KAT6B):c.147A>G (p.Glu49=) rs1041827351 0.00009
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.3264A>G (p.Glu1088=) rs551589427 0.00009
NM_012330.4(KAT6B):c.3326C>T (p.Ser1109Phe) rs199963389 0.00009
NM_012330.4(KAT6B):c.4478C>T (p.Ala1493Val) rs369068910 0.00007
NM_012330.4(KAT6B):c.4776A>G (p.Gln1592=) rs148492740 0.00007
NM_012330.4(KAT6B):c.504C>T (p.Asp168=) rs576505982 0.00007
NM_012330.4(KAT6B):c.5967C>T (p.Leu1989=) rs373882553 0.00006
NM_012330.4(KAT6B):c.3762C>T (p.Arg1254=) rs145119505 0.00005
NM_012330.4(KAT6B):c.1798C>T (p.His600Tyr) rs187153114 0.00004
NM_012330.4(KAT6B):c.4312G>A (p.Glu1438Lys) rs377275320 0.00004
NM_012330.4(KAT6B):c.3232G>A (p.Glu1078Lys) rs184028635 0.00003
NM_012330.4(KAT6B):c.3358G>T (p.Ala1120Ser) rs777180869 0.00003
NM_012330.4(KAT6B):c.3847C>G (p.Pro1283Ala) rs371747862 0.00003
NM_012330.4(KAT6B):c.4263C>T (p.Asn1421=) rs148928516 0.00003
NM_012330.4(KAT6B):c.1504G>A (p.Gly502Ser) rs745726033 0.00002
NM_012330.4(KAT6B):c.1754C>T (p.Ala585Val) rs780418110 0.00002
NM_012330.4(KAT6B):c.5360C>T (p.Thr1787Met) rs765731378 0.00002
NM_012330.4(KAT6B):c.5790G>A (p.Ala1930=) rs369127534 0.00002
NM_012330.4(KAT6B):c.1011A>T (p.Arg337=) rs927389645 0.00001
NM_012330.4(KAT6B):c.119A>G (p.His40Arg) rs1367725176 0.00001
NM_012330.4(KAT6B):c.1367T>C (p.Ile456Thr) rs766318986 0.00001
NM_012330.4(KAT6B):c.1782A>G (p.Arg594=) rs376823181 0.00001
NM_012330.4(KAT6B):c.3123G>C (p.Ser1041=) rs758752251 0.00001
NM_012330.4(KAT6B):c.3154C>T (p.Arg1052Trp) rs747968644 0.00001
NM_012330.4(KAT6B):c.4435G>A (p.Val1479Ile) rs775255115 0.00001
NM_012330.4(KAT6B):c.4632C>T (p.Ala1544=) rs772255130 0.00001
NM_012330.4(KAT6B):c.5112C>T (p.Cys1704=) rs767983250 0.00001
NM_012330.4(KAT6B):c.5262T>C (p.Cys1754=) rs775997284 0.00001
NM_012330.4(KAT6B):c.5386G>A (p.Glu1796Lys) rs201792033 0.00001
NM_012330.4(KAT6B):c.5592T>C (p.Ser1864=) rs1057524074 0.00001
NM_012330.4(KAT6B):c.717T>C (p.Asp239=) rs1416245734 0.00001
NM_012330.4(KAT6B):c.801C>T (p.Ile267=) rs1459841520 0.00001
NM_012330.4(KAT6B):c.-278C>T rs558172089
NM_012330.4(KAT6B):c.2116-187dup rs201992917
NM_012330.4(KAT6B):c.2231+310dup rs79915119
NM_012330.4(KAT6B):c.2878C>T (p.Arg960Trp) rs147643220
NM_012330.4(KAT6B):c.3240GGAAGAAGAGGA[1] (p.Glu1086_Glu1089del) rs201769534
NM_012330.4(KAT6B):c.3717C>G (p.Pro1239=) rs147746065
NM_012330.4(KAT6B):c.4065GGA[6] (p.Glu1368dup) rs367634881
NM_012330.4(KAT6B):c.4079AAGAGGAAG[2] (p.Glu1366_Glu1368del) rs375513122
NM_012330.4(KAT6B):c.4109AAG[5] (p.Glu1373dup) rs751483850
NM_012330.4(KAT6B):c.425C>T (p.Thr142Ile) rs1054836015
NM_012330.4(KAT6B):c.4647C>G (p.Thr1549=) rs747427953
NM_012330.4(KAT6B):c.5427G>T (p.Pro1809=) rs370396484
NM_012330.4(KAT6B):c.731-11del rs772911843
NM_012330.4(KAT6B):c.731-4A>G rs1342415990
NM_012330.4(KAT6B):c.840A>G (p.Arg280=) rs1554834891

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