ClinVar Miner

List of variants reported as pathogenic for Tatton-Brown-Rahman overgrowth syndrome

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ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_022552.5(DNMT3A):c.2711C>T (p.Pro904Leu) rs149095705 0.00006
NM_022552.5(DNMT3A):c.2311C>T (p.Arg771Ter) rs779626155 0.00004
NM_022552.5(DNMT3A):c.1904G>A (p.Arg635Gln) rs751562376 0.00003
NM_022552.5(DNMT3A):c.2207G>A (p.Arg736His) rs139293773 0.00003
NM_022552.5(DNMT3A):c.2245C>T (p.Arg749Cys) rs754613602 0.00003
NM_022552.5(DNMT3A):c.2309C>T (p.Ser770Leu) rs758845779 0.00003
NM_022552.5(DNMT3A):c.1792C>T (p.Arg598Ter) rs568207978 0.00002
NM_022552.5(DNMT3A):c.958C>T (p.Arg320Ter) rs778270132 0.00002
NM_022552.5(DNMT3A):c.1243C>T (p.Gln415Ter) rs754223052 0.00001
NM_022552.5(DNMT3A):c.1481G>C (p.Cys494Ser) rs1240736156 0.00001
NM_022552.5(DNMT3A):c.1555-1G>A rs759936287 0.00001
NM_022552.5(DNMT3A):c.1937-2A>G rs770305758 0.00001
NM_022552.5(DNMT3A):c.1976G>A (p.Arg659His) rs752434188 0.00001
NM_022552.5(DNMT3A):c.2322+1G>A rs903011938 0.00001
NM_022552.5(DNMT3A):c.2597+1G>A rs764855628 0.00001
NM_022552.5(DNMT3A):c.2678G>A (p.Trp893Ter) rs750515748 0.00001
NM_022552.5(DNMT3A):c.853G>T (p.Glu285Ter) rs201882909 0.00001
NM_022552.5(DNMT3A):c.856-10G>A rs913561874 0.00001
NC_000002.11:g.(?_24443763)_(25536853_?)del
NC_000002.11:g.(?_24443763)_(26029226_?)del
NC_000002.11:g.(?_25383950)_(25523132_?)del
NC_000002.11:g.(?_25458556)_(25458714_?)del
NC_000002.11:g.(?_25497790)_(25498432_?)del
NC_000002.11:g.(?_25522988)_(25536853_?)del
NC_000002.12:g.(?_25234259)_(25345952_?)del
NM_022552.5(DNMT3A):c.1004_1011del (p.Lys335fs) rs2465557541
NM_022552.5(DNMT3A):c.1023del (p.Glu342fs)
NM_022552.5(DNMT3A):c.1060_1069del (p.Phe354fs) rs1558671136
NM_022552.5(DNMT3A):c.1066C>T (p.Gln356Ter)
NM_022552.5(DNMT3A):c.1151del (p.Phe384fs) rs2465537504
NM_022552.5(DNMT3A):c.1227G>A (p.Trp409Ter)
NM_022552.5(DNMT3A):c.1238dup (p.Phe414fs) rs755744291
NM_022552.5(DNMT3A):c.1243del (p.Gln415fs) rs1558669964
NM_022552.5(DNMT3A):c.1258A>T (p.Lys420Ter) rs1674811011
NM_022552.5(DNMT3A):c.1279G>T (p.Glu427Ter) rs1558669897
NM_022552.5(DNMT3A):c.1342_1343dup (p.Ala449fs) rs2465522454
NM_022552.5(DNMT3A):c.1363A>T (p.Lys455Ter) rs1674744924
NM_022552.5(DNMT3A):c.1367del (p.Lys456fs) rs1178623915
NM_022552.5(DNMT3A):c.1510del (p.Leu504fs) rs1553412880
NM_022552.5(DNMT3A):c.1532dup (p.Gly512fs) rs2465500248
NM_022552.5(DNMT3A):c.1577dup (p.Tyr526Ter)
NM_022552.5(DNMT3A):c.1627G>C (p.Gly543Arg) rs752222356
NM_022552.5(DNMT3A):c.1628dup (p.Arg544fs) rs1164367418
NM_022552.5(DNMT3A):c.1643T>A (p.Met548Lys) rs587777509
NM_022552.5(DNMT3A):c.1647C>A (p.Cys549Ter) rs574130689
NM_022552.5(DNMT3A):c.1684T>G (p.Cys562Gly)
NM_022552.5(DNMT3A):c.1711del (p.Ala571fs)
NM_022552.5(DNMT3A):c.1711dup (p.Ala571fs) rs1558665485
NM_022552.5(DNMT3A):c.1757G>T (p.Cys586Phe) rs754506713
NM_022552.5(DNMT3A):c.1778_1793del (p.Gly593fs)
NM_022552.5(DNMT3A):c.1791del (p.Arg598fs) rs2149289125
NM_022552.5(DNMT3A):c.1792dup (p.Arg598fs) rs2465469627
NM_022552.5(DNMT3A):c.1867del (p.Tyr623fs) rs1553412022
NM_022552.5(DNMT3A):c.1943T>C (p.Leu648Pro) rs587777507
NM_022552.5(DNMT3A):c.2093G>A (p.Trp698Ter)
NM_022552.5(DNMT3A):c.2177G>T (p.Gly726Val) rs1432383727
NM_022552.5(DNMT3A):c.2196dup (p.Glu733Ter) rs771906613
NM_022552.5(DNMT3A):c.2204A>G (p.Tyr735Cys) rs147828672
NM_022552.5(DNMT3A):c.2259G>A (p.Trp753Ter) rs770785915
NM_022552.5(DNMT3A):c.2384G>A (p.Trp795Ter)
NM_022552.5(DNMT3A):c.2385G>A (p.Trp795Ter) rs1395575712
NM_022552.5(DNMT3A):c.2387del (p.Gly796fs)
NM_022552.5(DNMT3A):c.2401del (p.Gly800_Met801insTer)
NM_022552.5(DNMT3A):c.2409-2A>T
NM_022552.5(DNMT3A):c.2593_2594del (p.Glu865fs)
NM_022552.5(DNMT3A):c.2609del (p.Phe870fs) rs2465314655
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys) rs377577594
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
NM_022552.5(DNMT3A):c.2671del (p.Arg891fs)
NM_022552.5(DNMT3A):c.2705T>C (p.Phe902Ser) rs587777510
NM_022552.5(DNMT3A):c.27del (p.Asp11fs) rs2466005252
NM_022552.5(DNMT3A):c.427C>T (p.Arg143Ter) rs1352259738
NM_022552.5(DNMT3A):c.457C>T (p.Gln153Ter) rs2465786402
NM_022552.5(DNMT3A):c.629G>A (p.Trp210Ter) rs2149365370
NM_022552.5(DNMT3A):c.663_675del (p.Ile221fs)
NM_022552.5(DNMT3A):c.735del (p.Ala246fs) rs1553414406
NM_022552.5(DNMT3A):c.742C>T (p.Gln248Ter)
NM_022552.5(DNMT3A):c.760_767del (p.Ala254fs)
NM_022552.5(DNMT3A):c.761del (p.Ala254fs)
NM_022552.5(DNMT3A):c.867_870del (p.Phe290fs) rs2465563641
NM_022552.5(DNMT3A):c.889_891del (p.Trp297del) rs587777506
NM_022552.5(DNMT3A):c.929T>A (p.Ile310Asn) rs587777508

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