ClinVar Miner

List of variants in gene KAT6B reported as uncertain significance for Ohdo syndrome and variants

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_012330.4(KAT6B):c.3962A>T (p.Gln1321Leu) rs138030591 0.00021
NM_012330.4(KAT6B):c.307C>T (p.Arg103Cys) rs374549966 0.00015
NM_012330.4(KAT6B):c.2272A>G (p.Met758Val) rs766894762 0.00014
NM_012330.4(KAT6B):c.1282A>C (p.Asn428His) rs368259149 0.00010
NM_012330.4(KAT6B):c.3410G>A (p.Arg1137His) rs143090869 0.00010
NM_012330.4(KAT6B):c.5368G>A (p.Ala1790Thr) rs766117254 0.00010
NM_012330.4(KAT6B):c.1927A>T (p.Met643Leu) rs778899637 0.00007
NM_012330.4(KAT6B):c.1714C>T (p.Arg572Cys) rs766989154 0.00006
NM_012330.4(KAT6B):c.4807G>A (p.Val1603Ile) rs142688976 0.00006
NM_012330.4(KAT6B):c.6187A>C (p.Lys2063Gln) rs773473193 0.00006
NM_012330.4(KAT6B):c.4523C>A (p.Pro1508Gln) rs1014954135 0.00004
NM_012330.4(KAT6B):c.1439C>T (p.Ala480Val) rs749428929 0.00003
NM_012330.4(KAT6B):c.3994C>T (p.Pro1332Ser) rs764565963 0.00003
NM_012330.4(KAT6B):c.4879G>A (p.Ala1627Thr) rs199792793 0.00003
NM_012330.4(KAT6B):c.836G>A (p.Gly279Asp) rs370398832 0.00003
NM_012330.4(KAT6B):c.4834C>T (p.Arg1612Cys) rs140992439 0.00002
NM_012330.4(KAT6B):c.1189A>C (p.Ser397Arg) rs1842093971 0.00001
NM_012330.4(KAT6B):c.1667A>T (p.Gln556Leu) rs965354059 0.00001
NM_012330.4(KAT6B):c.1685A>G (p.His562Arg) rs1019373559 0.00001
NM_012330.4(KAT6B):c.1717C>T (p.Arg573Cys) rs756038238 0.00001
NM_012330.4(KAT6B):c.1865G>A (p.Arg622Gln) rs773318837 0.00001
NM_012330.4(KAT6B):c.2099A>G (p.Gln700Arg) rs371018598 0.00001
NM_012330.4(KAT6B):c.2116-9A>G rs747646395 0.00001
NM_012330.4(KAT6B):c.2879G>A (p.Arg960Gln) rs753695521 0.00001
NM_012330.4(KAT6B):c.3718G>A (p.Glu1240Lys) rs140989004 0.00001
NM_012330.4(KAT6B):c.4046A>G (p.Lys1349Arg) rs377300582 0.00001
NM_012330.4(KAT6B):c.4570G>A (p.Asp1524Asn) rs545973592 0.00001
NM_012330.4(KAT6B):c.5675C>T (p.Pro1892Leu) rs1037774698 0.00001
NM_012330.4(KAT6B):c.6014G>A (p.Gly2005Asp) rs141200092 0.00001
NM_012330.4(KAT6B):c.679C>T (p.Arg227Cys) rs749252195 0.00001
NM_012330.4(KAT6B):c.1278_1283del (p.Lys426_Val427del) rs760375622
NM_012330.4(KAT6B):c.1662G>A (p.Gln554=) rs1315521603
NM_012330.4(KAT6B):c.2186A>G (p.Glu729Gly)
NM_012330.4(KAT6B):c.2373+6C>A rs192506542
NM_012330.4(KAT6B):c.2839A>G (p.Met947Val) rs1845340492
NM_012330.4(KAT6B):c.3210AGA[2] (p.Glu1076del) rs765976563
NM_012330.4(KAT6B):c.3231_3242del (p.Asp1077_Glu1080del) rs569172957
NM_012330.4(KAT6B):c.3289GAA[10] (p.Glu1103_Glu1104dup) rs71929101
NM_012330.4(KAT6B):c.3341C>T (p.Thr1114Met) rs755451488
NM_012330.4(KAT6B):c.3668A>G (p.Asn1223Ser)
NM_012330.4(KAT6B):c.388G>A (p.Glu130Lys) rs2132074046
NM_012330.4(KAT6B):c.390G>T (p.Glu130Asp) rs771449717
NM_012330.4(KAT6B):c.4065GGA[4] (p.Glu1368del) rs367634881
NM_012330.4(KAT6B):c.4230GGA[2] (p.Glu1414del) rs745314195
NM_012330.4(KAT6B):c.425C>T (p.Thr142Ile) rs1054836015
NM_012330.4(KAT6B):c.5488C>T (p.His1830Tyr) rs752572188
NM_012330.4(KAT6B):c.5609G>C (p.Gly1870Ala)
NM_012330.4(KAT6B):c.586C>G (p.Pro196Ala) rs2132075785
NM_012330.4(KAT6B):c.5949C>A (p.Asn1983Lys) rs745470061

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