ClinVar Miner

List of variants in gene DNMT3A reported as likely benign for Tatton-Brown-Rahman overgrowth syndrome

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 214
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HGVS dbSNP gnomAD frequency
NM_022552.5(DNMT3A):c.89A>C (p.Glu30Ala) rs143730975 0.00459
NM_022552.5(DNMT3A):c.2478+13G>A rs143620117 0.00039
NM_022552.5(DNMT3A):c.1502A>G (p.Asn501Ser) rs149738328 0.00035
NM_022552.5(DNMT3A):c.72+9C>T rs758596753 0.00026
NM_022552.5(DNMT3A):c.1155G>A (p.Pro385=) rs368009374 0.00020
NM_022552.5(DNMT3A):c.1038G>A (p.Pro346=) rs199924489 0.00018
NM_022552.5(DNMT3A):c.1164C>T (p.His388=) rs138150208 0.00018
NM_022552.5(DNMT3A):c.131C>T (p.Thr44Met) rs199643287 0.00014
NM_022552.5(DNMT3A):c.1491T>C (p.Cys497=) rs375421208 0.00014
NM_022552.5(DNMT3A):c.1555-13C>T rs763521408 0.00014
NM_022552.5(DNMT3A):c.1677C>T (p.Cys559=) rs775908350 0.00013
NM_022552.5(DNMT3A):c.2697C>T (p.Arg899=) rs61758432 0.00013
NM_022552.5(DNMT3A):c.2658G>A (p.Gln886=) rs375544980 0.00011
NM_022552.5(DNMT3A):c.2331T>C (p.Pro777=) rs758014471 0.00009
NM_022552.5(DNMT3A):c.1344C>T (p.Tyr448=) rs137931376 0.00007
NM_022552.5(DNMT3A):c.1074G>A (p.Thr358=) rs200905691 0.00006
NM_022552.5(DNMT3A):c.1575G>A (p.Ala525=) rs771486108 0.00005
NM_022552.5(DNMT3A):c.576G>A (p.Ala192=) rs1390745466 0.00005
NM_022552.5(DNMT3A):c.2083-20C>T rs778981805 0.00004
NM_022552.5(DNMT3A):c.2601A>C (p.Val867=) rs141606269 0.00004
NM_022552.5(DNMT3A):c.2628C>T (p.Asp876=) rs368516543 0.00004
NM_022552.5(DNMT3A):c.2712G>A (p.Pro904=) rs538669211 0.00004
NM_022552.5(DNMT3A):c.448+7C>T rs773465605 0.00004
NM_022552.5(DNMT3A):c.36C>T (p.Thr12=) rs755420185 0.00003
NM_022552.5(DNMT3A):c.16T>G (p.Ser6Ala) rs773893946 0.00002
NM_022552.5(DNMT3A):c.2083-19G>A rs770979875 0.00002
NM_022552.5(DNMT3A):c.51G>A (p.Ala17=) rs1055980301 0.00002
NM_022552.5(DNMT3A):c.558G>A (p.Pro186=) rs748092122 0.00002
NM_022552.5(DNMT3A):c.73-18C>T rs769373878 0.00002
NM_022552.5(DNMT3A):c.852C>T (p.Tyr284=) rs770004816 0.00002
NM_022552.5(DNMT3A):c.1194C>T (p.Ala398=) rs771414753 0.00001
NM_022552.5(DNMT3A):c.210G>A (p.Ala70=) rs779711186 0.00001
NM_022552.5(DNMT3A):c.2232G>A (p.Lys744=) rs944224150 0.00001
NM_022552.5(DNMT3A):c.240G>A (p.Gln80=) rs528145106 0.00001
NM_022552.5(DNMT3A):c.270T>C (p.Asn90=) rs1162728512 0.00001
NM_022552.5(DNMT3A):c.609G>C (p.Arg203=) rs1440660785 0.00001
NM_022552.5(DNMT3A):c.765C>T (p.Ser255=) rs768369047 0.00001
NM_022552.5(DNMT3A):c.792C>T (p.Pro264=) rs756740383 0.00001
NM_022552.5(DNMT3A):c.1014+19C>T
NM_022552.5(DNMT3A):c.1015-20G>A
NM_022552.5(DNMT3A):c.1015-4C>G
NM_022552.5(DNMT3A):c.1015-4C>T rs771608861
NM_022552.5(DNMT3A):c.1015-6C>T
NM_022552.5(DNMT3A):c.1015-8C>A
NM_022552.5(DNMT3A):c.1015-9T>C
NM_022552.5(DNMT3A):c.1017G>A (p.Val339=)
NM_022552.5(DNMT3A):c.1023T>C (p.Val341=)
NM_022552.5(DNMT3A):c.1047G>A (p.Ser349=)
NM_022552.5(DNMT3A):c.1059G>A (p.Ala353=)
NM_022552.5(DNMT3A):c.1074G>T (p.Thr358=) rs200905691
NM_022552.5(DNMT3A):c.1110C>T (p.Tyr370=)
NM_022552.5(DNMT3A):c.1116C>T (p.Val372=)
NM_022552.5(DNMT3A):c.1122+15T>A
NM_022552.5(DNMT3A):c.1122+17G>A rs2149304814
NM_022552.5(DNMT3A):c.1122+9C>A
NM_022552.5(DNMT3A):c.1123-10C>T
NM_022552.5(DNMT3A):c.1123-12G>A
NM_022552.5(DNMT3A):c.1123-14G>A
NM_022552.5(DNMT3A):c.1123-4C>T
NM_022552.5(DNMT3A):c.1123-9A>G
NM_022552.5(DNMT3A):c.1137C>T (p.Arg379=)
NM_022552.5(DNMT3A):c.1140G>C (p.Ala380=)
NM_022552.5(DNMT3A):c.1143G>A (p.Gly381=)
NM_022552.5(DNMT3A):c.1149G>A (p.Leu383=)
NM_022552.5(DNMT3A):c.1152C>T (p.Phe384=)
NM_022552.5(DNMT3A):c.1231C>T (p.Leu411=)
NM_022552.5(DNMT3A):c.1233G>T (p.Leu411=)
NM_022552.5(DNMT3A):c.1242C>T (p.Phe414=)
NM_022552.5(DNMT3A):c.1245G>A (p.Gln415=)
NM_022552.5(DNMT3A):c.1279+13A>C
NM_022552.5(DNMT3A):c.1293C>T (p.Pro431=)
NM_022552.5(DNMT3A):c.1305G>A (p.Val435=)
NM_022552.5(DNMT3A):c.1311G>A (p.Thr437=)
NM_022552.5(DNMT3A):c.1383A>G (p.Thr461=)
NM_022552.5(DNMT3A):c.1395C>T (p.Pro465=)
NM_022552.5(DNMT3A):c.1429+17T>C
NM_022552.5(DNMT3A):c.1430-14T>C
NM_022552.5(DNMT3A):c.1474+19A>C
NM_022552.5(DNMT3A):c.1475-19C>T
NM_022552.5(DNMT3A):c.1475-4C>G
NM_022552.5(DNMT3A):c.1521C>T (p.Pro507=)
NM_022552.5(DNMT3A):c.1528G>A (p.Val510Ile)
NM_022552.5(DNMT3A):c.1545A>G (p.Gln515=)
NM_022552.5(DNMT3A):c.1554+12C>A
NM_022552.5(DNMT3A):c.1555-8C>T
NM_022552.5(DNMT3A):c.1569G>A (p.Glu523=)
NM_022552.5(DNMT3A):c.1581G>A (p.Gln527=)
NM_022552.5(DNMT3A):c.1584C>T (p.Tyr528=)
NM_022552.5(DNMT3A):c.1587C>T (p.Asp529=)
NM_022552.5(DNMT3A):c.1593C>T (p.Asp531=)
NM_022552.5(DNMT3A):c.1596C>A (p.Gly532=)
NM_022552.5(DNMT3A):c.1611C>T (p.Cys537=)
NM_022552.5(DNMT3A):c.162G>A (p.Lys54=)
NM_022552.5(DNMT3A):c.1632T>G (p.Arg544=)
NM_022552.5(DNMT3A):c.1647C>T (p.Cys549=)
NM_022552.5(DNMT3A):c.1667+16C>A
NM_022552.5(DNMT3A):c.1668-12G>A
NM_022552.5(DNMT3A):c.1707G>A (p.Pro569=)
NM_022552.5(DNMT3A):c.1713T>G (p.Ala571=)
NM_022552.5(DNMT3A):c.1716C>G (p.Ala572=)
NM_022552.5(DNMT3A):c.174C>T (p.Pro58=)
NM_022552.5(DNMT3A):c.1758C>T (p.Cys586=)
NM_022552.5(DNMT3A):c.177+10A>G
NM_022552.5(DNMT3A):c.1776C>T (p.Tyr592=)
NM_022552.5(DNMT3A):c.1780C>T (p.Leu594=)
NM_022552.5(DNMT3A):c.1827C>T (p.Phe609=)
NM_022552.5(DNMT3A):c.1845G>A (p.Gln615=)
NM_022552.5(DNMT3A):c.1851+19G>T
NM_022552.5(DNMT3A):c.1851+20C>T
NM_022552.5(DNMT3A):c.1852-20C>A
NM_022552.5(DNMT3A):c.1852-5C>T
NM_022552.5(DNMT3A):c.1852-9A>G
NM_022552.5(DNMT3A):c.1854C>T (p.Asp618=)
NM_022552.5(DNMT3A):c.1860A>G (p.Pro620=)
NM_022552.5(DNMT3A):c.186C>T (p.Ser62=)
NM_022552.5(DNMT3A):c.1899C>T (p.Pro633=)
NM_022552.5(DNMT3A):c.1936+10G>A
NM_022552.5(DNMT3A):c.1936+14G>T
NM_022552.5(DNMT3A):c.1936+8G>A
NM_022552.5(DNMT3A):c.1956C>T (p.Asp652=)
NM_022552.5(DNMT3A):c.195G>A (p.Thr65=)
NM_022552.5(DNMT3A):c.1989G>A (p.Ser663=)
NM_022552.5(DNMT3A):c.2013G>A (p.Thr671=)
NM_022552.5(DNMT3A):c.2037G>C (p.Gly679=)
NM_022552.5(DNMT3A):c.2055G>A (p.Gly685=)
NM_022552.5(DNMT3A):c.2058C>T (p.Asp686=)
NM_022552.5(DNMT3A):c.2067C>T (p.Ser689=)
NM_022552.5(DNMT3A):c.2082+10T>C
NM_022552.5(DNMT3A):c.2082+20C>T
NM_022552.5(DNMT3A):c.2083-19G>C
NM_022552.5(DNMT3A):c.2083-7C>T
NM_022552.5(DNMT3A):c.2115T>C (p.Ile705=)
NM_022552.5(DNMT3A):c.2154T>G (p.Pro718=)
NM_022552.5(DNMT3A):c.2173+18C>T
NM_022552.5(DNMT3A):c.2174-10G>A
NM_022552.5(DNMT3A):c.2174-11C>T
NM_022552.5(DNMT3A):c.2174-19T>G
NM_022552.5(DNMT3A):c.2181T>C (p.Thr727=)
NM_022552.5(DNMT3A):c.21C>T (p.Ser7=)
NM_022552.5(DNMT3A):c.2211C>G (p.Leu737=)
NM_022552.5(DNMT3A):c.228A>G (p.Pro76=)
NM_022552.5(DNMT3A):c.2310G>A (p.Ser770=)
NM_022552.5(DNMT3A):c.2323-16G>A
NM_022552.5(DNMT3A):c.2323-17C>T
NM_022552.5(DNMT3A):c.2323-19dup
NM_022552.5(DNMT3A):c.2373C>T (p.Ala791=)
NM_022552.5(DNMT3A):c.237C>A (p.Ala79=)
NM_022552.5(DNMT3A):c.2408+12C>T
NM_022552.5(DNMT3A):c.2408+14C>T
NM_022552.5(DNMT3A):c.2412G>A (p.Pro804=)
NM_022552.5(DNMT3A):c.2412G>C (p.Pro804=)
NM_022552.5(DNMT3A):c.2418A>G (p.Ala806=)
NM_022552.5(DNMT3A):c.2460G>A (p.Glu820=)
NM_022552.5(DNMT3A):c.2478+12C>T
NM_022552.5(DNMT3A):c.2479-10C>T
NM_022552.5(DNMT3A):c.2479-15C>T
NM_022552.5(DNMT3A):c.249C>T (p.Gly83=)
NM_022552.5(DNMT3A):c.2505G>A (p.Thr835=)
NM_022552.5(DNMT3A):c.2538G>A (p.Gln846=) rs2149257629
NM_022552.5(DNMT3A):c.2597+12G>A
NM_022552.5(DNMT3A):c.2597+12G>T
NM_022552.5(DNMT3A):c.2597+15C>A
NM_022552.5(DNMT3A):c.2597+7G>A
NM_022552.5(DNMT3A):c.2598-7C>T rs756540099
NM_022552.5(DNMT3A):c.2622T>C (p.Tyr874=)
NM_022552.5(DNMT3A):c.2625T>C (p.Thr875=)
NM_022552.5(DNMT3A):c.2643C>T (p.Ser881=)
NM_022552.5(DNMT3A):c.2647T>C (p.Leu883=)
NM_022552.5(DNMT3A):c.2659A>C (p.Arg887=) rs755252969
NM_022552.5(DNMT3A):c.267C>T (p.Pro89=)
NM_022552.5(DNMT3A):c.2682C>T (p.Ser894=)
NM_022552.5(DNMT3A):c.2703C>G (p.Leu901=)
NM_022552.5(DNMT3A):c.2730G>A (p.Ala910=)
NM_022552.5(DNMT3A):c.2738A>G (p.Ter913=)
NM_022552.5(DNMT3A):c.300G>A (p.Gln100=)
NM_022552.5(DNMT3A):c.309G>A (p.Glu103=)
NM_022552.5(DNMT3A):c.324G>A (p.Gly108=)
NM_022552.5(DNMT3A):c.336C>T (p.Gly112=)
NM_022552.5(DNMT3A):c.408C>T (p.Cys136=)
NM_022552.5(DNMT3A):c.446C>T (p.Ala149Val) rs767055283
NM_022552.5(DNMT3A):c.448+20G>T
NM_022552.5(DNMT3A):c.493-14T>G
NM_022552.5(DNMT3A):c.493-15G>A
NM_022552.5(DNMT3A):c.582C>T (p.Asp194=)
NM_022552.5(DNMT3A):c.639+15G>C
NM_022552.5(DNMT3A):c.639+19T>A
NM_022552.5(DNMT3A):c.639+6G>A rs559534512
NM_022552.5(DNMT3A):c.639+7C>T
NM_022552.5(DNMT3A):c.640-10G>T
NM_022552.5(DNMT3A):c.640-17G>C
NM_022552.5(DNMT3A):c.640-5C>T
NM_022552.5(DNMT3A):c.660C>A (p.Val220=)
NM_022552.5(DNMT3A):c.669A>T (p.Gly223=)
NM_022552.5(DNMT3A):c.67C>T (p.Arg23Ter) rs2034255903
NM_022552.5(DNMT3A):c.696G>A (p.Gly232=)
NM_022552.5(DNMT3A):c.699C>T (p.Pro233=)
NM_022552.5(DNMT3A):c.72+10G>C
NM_022552.5(DNMT3A):c.73-8G>T
NM_022552.5(DNMT3A):c.75C>T (p.Asp25=)
NM_022552.5(DNMT3A):c.768C>T (p.Pro256=) rs532245832
NM_022552.5(DNMT3A):c.780C>T (p.Thr260=)
NM_022552.5(DNMT3A):c.783G>T (p.Thr261=)
NM_022552.5(DNMT3A):c.801C>G (p.Ser267=)
NM_022552.5(DNMT3A):c.807T>C (p.Ala269=)
NM_022552.5(DNMT3A):c.840C>T (p.Asp280=)
NM_022552.5(DNMT3A):c.855+7G>A
NM_022552.5(DNMT3A):c.856-14C>T
NM_022552.5(DNMT3A):c.856-4C>T
NM_022552.5(DNMT3A):c.856-7G>A
NM_022552.5(DNMT3A):c.858C>T (p.Asp286=)
NM_022552.5(DNMT3A):c.948G>C (p.Thr316=)
NM_022552.5(DNMT3A):c.96G>A (p.Pro32=)
NM_022552.5(DNMT3A):c.993C>T (p.Phe331=)
NM_022552.5(DNMT3A):c.999C>T (p.Asp333=)

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