ClinVar Miner

List of variants in gene KAT6B reported as benign for bone development disease

Included ClinVar conditions (614):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_012330.4(KAT6B):c.4278C>T (p.Ala1426=) rs3740322 0.03160
NM_012330.4(KAT6B):c.4495G>A (p.Val1499Ile) rs3740321 0.03151
NM_012330.4(KAT6B):c.3649G>T (p.Ala1217Ser) rs57372986 0.00678
NM_012330.4(KAT6B):c.929-12A>G rs190502446 0.00571
NM_012330.4(KAT6B):c.4407G>A (p.Ser1469=) rs114126792 0.00421
NM_012330.4(KAT6B):c.4835G>A (p.Arg1612His) rs72803461 0.00277
NM_012330.4(KAT6B):c.375C>T (p.Ser125=) rs41314998 0.00269
NM_012330.4(KAT6B):c.2231+9A>G rs201260397 0.00101
NM_012330.4(KAT6B):c.1663G>A (p.Gly555Arg) rs146395020 0.00054
NM_012330.4(KAT6B):c.5970C>T (p.Asn1990=) rs140359323 0.00046
NM_012330.4(KAT6B):c.4441C>G (p.Leu1481Val) rs567260713 0.00045
NM_012330.4(KAT6B):c.4239A>G (p.Glu1413=) rs140636550 0.00038
NM_012330.4(KAT6B):c.4633G>A (p.Val1545Ile) rs145158232 0.00033
NM_012330.4(KAT6B):c.6162C>T (p.His2054=) rs192237531 0.00030
NM_012330.4(KAT6B):c.4434C>T (p.Gly1478=) rs148364222 0.00026
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.3962A>T (p.Gln1321Leu) rs138030591 0.00021
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.625C>T (p.Arg209Cys) rs572706456 0.00019
NM_012330.4(KAT6B):c.3685A>G (p.Ser1229Gly) rs182978198 0.00016
NM_012330.4(KAT6B):c.6048G>A (p.Thr2016=) rs116978399 0.00016
NM_012330.4(KAT6B):c.307C>T (p.Arg103Cys) rs374549966 0.00015
NM_012330.4(KAT6B):c.730+7T>A rs571475726 0.00014
NM_012330.4(KAT6B):c.4036G>T (p.Asp1346Tyr) rs542036896 0.00010
NM_012330.4(KAT6B):c.699A>G (p.Glu233=) rs188787788 0.00010
NM_012330.4(KAT6B):c.839G>A (p.Arg280Lys) rs148243411 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.3106C>A (p.Pro1036Thr) rs764184204 0.00004
NM_012330.4(KAT6B):c.4312G>A (p.Glu1438Lys) rs377275320 0.00004
NM_012330.4(KAT6B):c.2153G>A (p.Arg718Gln) rs754128910 0.00003
NM_012330.4(KAT6B):c.4384C>A (p.Leu1462Ile) rs374530664 0.00003
NM_012330.4(KAT6B):c.5232G>A (p.Pro1744=) rs569870263 0.00003
NM_012330.4(KAT6B):c.510G>A (p.Pro170=) rs750020725 0.00002
NM_012330.4(KAT6B):c.1367T>C (p.Ile456Thr) rs766318986 0.00001
NM_012330.4(KAT6B):c.1540A>G (p.Thr514Ala) rs534868169 0.00001
NM_012330.4(KAT6B):c.1654A>G (p.Thr552Ala) rs373962168 0.00001
NM_012330.4(KAT6B):c.2099A>G (p.Gln700Arg) rs371018598 0.00001
NM_012330.4(KAT6B):c.2501A>T (p.Glu834Val) rs768402080 0.00001
NM_012330.4(KAT6B):c.3109G>A (p.Ala1037Thr) rs754306389 0.00001
NM_012330.4(KAT6B):c.3226G>A (p.Glu1076Lys) rs750930283 0.00001
NM_012330.4(KAT6B):c.3533T>C (p.Ile1178Thr) rs1264397368 0.00001
NM_012330.4(KAT6B):c.365A>G (p.Asn122Ser) rs1287506606 0.00001
NM_012330.4(KAT6B):c.3718G>A (p.Glu1240Lys) rs140989004 0.00001
NM_012330.4(KAT6B):c.3728A>G (p.Lys1243Arg) rs758355954 0.00001
NM_012330.4(KAT6B):c.4080A>G (p.Glu1360=) rs546432678 0.00001
NM_012330.4(KAT6B):c.4435G>A (p.Val1479Ile) rs775255115 0.00001
NM_012330.4(KAT6B):c.4656C>G (p.Ser1552Arg) rs768290031 0.00001
NM_012330.4(KAT6B):c.104C>T (p.Ala35Val)
NM_012330.4(KAT6B):c.1388G>A (p.Arg463His)
NM_012330.4(KAT6B):c.1485A>G (p.Pro495=)
NM_012330.4(KAT6B):c.1684C>T (p.His562Tyr)
NM_012330.4(KAT6B):c.2008A>G (p.Ile670Val)
NM_012330.4(KAT6B):c.2042T>A (p.Val681Glu)
NM_012330.4(KAT6B):c.2124G>C (p.Glu708Asp)
NM_012330.4(KAT6B):c.2270A>G (p.Tyr757Cys)
NM_012330.4(KAT6B):c.2373+6C>T rs192506542
NM_012330.4(KAT6B):c.2612G>A (p.Arg871Gln)
NM_012330.4(KAT6B):c.2744A>G (p.Tyr915Cys)
NM_012330.4(KAT6B):c.2878C>T (p.Arg960Trp) rs147643220
NM_012330.4(KAT6B):c.2950A>T (p.Ser984Cys)
NM_012330.4(KAT6B):c.299A>G (p.Asn100Ser)
NM_012330.4(KAT6B):c.3146C>T (p.Pro1049Leu)
NM_012330.4(KAT6B):c.3231_3242del (p.Asp1077_Glu1080del) rs569172957
NM_012330.4(KAT6B):c.3240GGAAGAAGAGGA[1] (p.Glu1086_Glu1089del) rs201769534
NM_012330.4(KAT6B):c.3289GAA[7] (p.Glu1104del) rs71929101
NM_012330.4(KAT6B):c.3409C>A (p.Arg1137Ser)
NM_012330.4(KAT6B):c.3717C>T (p.Pro1239=) rs147746065
NM_012330.4(KAT6B):c.4079AAGAGGAAG[2] (p.Glu1366_Glu1368del) rs375513122
NM_012330.4(KAT6B):c.4079AAGAGGAAG[4] (p.Glu1366_Glu1368dup) rs375513122
NM_012330.4(KAT6B):c.4099G>C (p.Glu1367Gln)
NM_012330.4(KAT6B):c.4109AAG[5] (p.Glu1373dup) rs751483850
NM_012330.4(KAT6B):c.423C>G (p.Ser141Arg)
NM_012330.4(KAT6B):c.425C>T (p.Thr142Ile) rs1054836015
NM_012330.4(KAT6B):c.4279G>T (p.Asp1427Tyr)
NM_012330.4(KAT6B):c.4285G>A (p.Glu1429Lys) rs1846114839
NM_012330.4(KAT6B):c.4376T>C (p.Phe1459Ser)
NM_012330.4(KAT6B):c.4397C>G (p.Pro1466Arg)
NM_012330.4(KAT6B):c.4423A>G (p.Met1475Val) rs774593261
NM_012330.4(KAT6B):c.4447G>C (p.Ala1483Pro)
NM_012330.4(KAT6B):c.4534G>C (p.Ala1512Pro)
NM_012330.4(KAT6B):c.4573A>G (p.Thr1525Ala)
NM_012330.4(KAT6B):c.4609A>G (p.Ile1537Val)
NM_012330.4(KAT6B):c.4657A>T (p.Ser1553Cys)
NM_012330.4(KAT6B):c.4727C>A (p.Thr1576Asn)
NM_012330.4(KAT6B):c.5242G>A (p.Val1748Ile)
NM_012330.4(KAT6B):c.5784G>A (p.Lys1928=)
NM_012330.4(KAT6B):c.5806G>T (p.Ala1936Ser)
NM_012330.4(KAT6B):c.592G>C (p.Val198Leu)
NM_012330.4(KAT6B):c.6130G>A (p.Gly2044Ser)
NM_012330.4(KAT6B):c.6149C>T (p.Ala2050Val)
NM_012330.4(KAT6B):c.730+19A>G
NM_012330.4(KAT6B):c.731-11del rs772911843
NM_012330.4(KAT6B):c.781G>A (p.Ala261Thr)
NM_012330.4(KAT6B):c.846T>C (p.Ala282=)
NM_012330.4(KAT6B):c.928+6C>G
NM_012330.4(KAT6B):c.933G>C (p.Met311Ile)

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