ClinVar Miner

List of variants reported as uncertain significance for Tatton-Brown-Rahman overgrowth syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 177
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HGVS dbSNP gnomAD frequency
NM_022552.5(DNMT3A):c.1385C>T (p.Ala462Val) rs200845575 0.00027
NM_022552.5(DNMT3A):c.639+6G>C rs559534512 0.00025
NM_022552.5(DNMT3A):c.1123-15C>T rs758685651 0.00006
NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp) rs144689354 0.00006
NM_022552.5(DNMT3A):c.287G>A (p.Arg96Gln) rs771499883 0.00006
NM_022552.5(DNMT3A):c.386C>T (p.Ser129Leu) rs1008365985 0.00006
NM_022552.5(DNMT3A):c.76G>A (p.Gly26Arg) rs781524740 0.00006
NM_022552.5(DNMT3A):c.1055G>A (p.Ser352Asn) rs139053291 0.00005
NM_022552.5(DNMT3A):c.1138G>A (p.Ala380Thr) rs762563426 0.00005
NM_022552.5(DNMT3A):c.751A>C (p.Thr251Pro) rs139388008 0.00005
NM_022552.5(DNMT3A):c.1310C>T (p.Thr437Met) rs370379375 0.00004
NM_022552.5(DNMT3A):c.2598-3C>T rs371855601 0.00004
NM_022552.5(DNMT3A):c.835G>A (p.Asp279Asn) rs1203141216 0.00004
NM_022552.5(DNMT3A):c.1114G>A (p.Val372Ile) rs371677904 0.00003
NM_022552.5(DNMT3A):c.1317G>A (p.Met439Ile) rs1004570713 0.00003
NM_022552.5(DNMT3A):c.1667+3G>A rs769054584 0.00003
NM_022552.5(DNMT3A):c.2185C>T (p.Arg729Trp) rs200018028 0.00003
NM_022552.5(DNMT3A):c.2207G>A (p.Arg736His) rs139293773 0.00003
NM_022552.5(DNMT3A):c.269A>G (p.Asn90Ser) rs769476651 0.00003
NM_022552.5(DNMT3A):c.337G>A (p.Gly113Arg) rs758151481 0.00003
NM_022552.5(DNMT3A):c.428G>A (p.Arg143Gln) rs745432645 0.00003
NM_022552.5(DNMT3A):c.721G>A (p.Glu241Lys) rs761452501 0.00003
NM_022552.5(DNMT3A):c.7G>A (p.Ala3Thr) rs745380962 0.00003
NM_022552.5(DNMT3A):c.1097G>A (p.Arg366His) rs767236033 0.00002
NM_022552.5(DNMT3A):c.1122+3G>A rs189798836 0.00002
NM_022552.5(DNMT3A):c.128C>T (p.Thr43Ile) rs1417961680 0.00002
NM_022552.5(DNMT3A):c.1787G>A (p.Arg596Gln) rs899717364 0.00002
NM_022552.5(DNMT3A):c.2053G>A (p.Gly685Arg) rs779176507 0.00002
NM_022552.5(DNMT3A):c.209C>T (p.Ala70Val) rs746884153 0.00002
NM_022552.5(DNMT3A):c.2141C>G (p.Ser714Cys) rs367909007 0.00002
NM_022552.5(DNMT3A):c.2206C>T (p.Arg736Cys) rs761934754 0.00002
NM_022552.5(DNMT3A):c.250G>A (p.Ala84Thr) rs753287419 0.00002
NM_022552.5(DNMT3A):c.353G>C (p.Gly118Ala) rs757173108 0.00002
NM_022552.5(DNMT3A):c.447G>A (p.Ala149=) rs763553315 0.00002
NM_022552.5(DNMT3A):c.55C>T (p.Arg19Trp) rs959218576 0.00002
NM_022552.5(DNMT3A):c.793G>A (p.Val265Met) rs1483397095 0.00002
NM_022552.5(DNMT3A):c.855+6C>T rs531358871 0.00002
NM_022552.5(DNMT3A):c.112C>T (p.Arg38Cys) rs779208522 0.00001
NM_022552.5(DNMT3A):c.1135C>T (p.Arg379Cys) rs754459010 0.00001
NM_022552.5(DNMT3A):c.113G>A (p.Arg38His) rs369618387 0.00001
NM_022552.5(DNMT3A):c.1154C>T (p.Pro385Leu) rs775677376 0.00001
NM_022552.5(DNMT3A):c.1345G>A (p.Ala449Thr) rs745406398 0.00001
NM_022552.5(DNMT3A):c.1421G>A (p.Arg474His) rs1457323351 0.00001
NM_022552.5(DNMT3A):c.1706C>T (p.Pro569Leu) rs772310511 0.00001
NM_022552.5(DNMT3A):c.1757G>A (p.Cys586Tyr) rs754506713 0.00001
NM_022552.5(DNMT3A):c.1810C>T (p.Arg604Trp) rs1368287759 0.00001
NM_022552.5(DNMT3A):c.185G>A (p.Ser62Asn) rs2465823184 0.00001
NM_022552.5(DNMT3A):c.19A>G (p.Ser7Gly) rs770554124 0.00001
NM_022552.5(DNMT3A):c.2026C>T (p.Arg676Trp) rs375399431 0.00001
NM_022552.5(DNMT3A):c.2059G>A (p.Val687Ile) rs1183198167 0.00001
NM_022552.5(DNMT3A):c.2063G>A (p.Arg688His) rs369713081 0.00001
NM_022552.5(DNMT3A):c.2287G>A (p.Val763Ile) rs1369746569 0.00001
NM_022552.5(DNMT3A):c.2695C>T (p.Arg899Cys) rs771922296 0.00001
NM_022552.5(DNMT3A):c.2729C>T (p.Ala910Val) rs1459396018 0.00001
NM_022552.5(DNMT3A):c.322G>A (p.Gly108Arg) rs540173622 0.00001
NM_022552.5(DNMT3A):c.343C>G (p.Pro115Ala) rs1170030002 0.00001
NM_022552.5(DNMT3A):c.445G>A (p.Ala149Thr) rs751918466 0.00001
NM_022552.5(DNMT3A):c.50C>T (p.Ala17Val) rs1299885148 0.00001
NM_022552.5(DNMT3A):c.58G>A (p.Glu20Lys) rs781254365 0.00001
NM_022552.5(DNMT3A):c.694G>A (p.Gly232Arg) rs916077424 0.00001
NM_022552.5(DNMT3A):c.700G>A (p.Gly234Arg) rs757912991 0.00001
NM_022552.5(DNMT3A):c.706T>C (p.Ser236Pro) rs144134652 0.00001
NM_022552.5(DNMT3A):c.736G>A (p.Ala246Thr) rs1378389616 0.00001
NM_022552.5(DNMT3A):c.834C>T (p.Gly278=) rs771158367 0.00001
NM_022552.5(DNMT3A):c.838G>A (p.Asp280Asn) rs893934873 0.00001
NM_022552.5(DNMT3A):c.875T>C (p.Ile292Thr) rs777306476 0.00001
NM_022552.5(DNMT3A):c.97C>T (p.Arg33Cys) rs758534627 0.00001
NM_022552.5(DNMT3A):c.98G>A (p.Arg33His) rs746009417 0.00001
NC_000002.11:g.(?_24443763)_(26068452_?)dup
NC_000002.11:g.(?_24443763)_(29022169_?)dup
NC_000002.12:g.(?_25300139)_(25300243_?)del
NM_022552.5(DNMT3A):c.1000G>A (p.Gly334Ser) rs1024296111
NM_022552.5(DNMT3A):c.1006T>C (p.Phe336Leu) rs2465557740
NM_022552.5(DNMT3A):c.1015-3C>T
NM_022552.5(DNMT3A):c.1029G>A (p.Lys343=)
NM_022552.5(DNMT3A):c.1031T>C (p.Leu344Pro)
NM_022552.5(DNMT3A):c.1057G>A (p.Ala353Thr) rs2149305402
NM_022552.5(DNMT3A):c.1102G>A (p.Ala368Thr) rs1347653303
NM_022552.5(DNMT3A):c.1124T>G (p.Val375Gly)
NM_022552.5(DNMT3A):c.1127C>A (p.Ala376Asp) rs2465538515
NM_022552.5(DNMT3A):c.113G>T (p.Arg38Leu) rs369618387
NM_022552.5(DNMT3A):c.1148T>C (p.Leu383Pro) rs769153444
NM_022552.5(DNMT3A):c.120G>T (p.Glu40Asp) rs202118149
NM_022552.5(DNMT3A):c.122C>T (p.Pro41Leu) rs1398341368
NM_022552.5(DNMT3A):c.1270C>T (p.Pro424Ser) rs2465532939
NM_022552.5(DNMT3A):c.1274C>T (p.Pro425Leu) rs1674807447
NM_022552.5(DNMT3A):c.1276G>A (p.Glu426Lys)
NM_022552.5(DNMT3A):c.1280A>G (p.Glu427Gly) rs753259596
NM_022552.5(DNMT3A):c.1289A>G (p.Asn430Ser) rs2465525103
NM_022552.5(DNMT3A):c.13C>T (p.Pro5Ser) rs1364437125
NM_022552.5(DNMT3A):c.1420C>T (p.Arg474Cys)
NM_022552.5(DNMT3A):c.1446G>T (p.Glu482Asp) rs1301835120
NM_022552.5(DNMT3A):c.1463G>A (p.Arg488Gln)
NM_022552.5(DNMT3A):c.1465A>C (p.Asn489His)
NM_022552.5(DNMT3A):c.1469T>C (p.Ile490Thr) rs757283738
NM_022552.5(DNMT3A):c.1474+4A>T
NM_022552.5(DNMT3A):c.147G>T (p.Gly49=) rs1182052940
NM_022552.5(DNMT3A):c.1490G>C (p.Cys497Ser) rs779323387
NM_022552.5(DNMT3A):c.1502A>T (p.Asn501Ile)
NM_022552.5(DNMT3A):c.1555-37_1555-18del rs2465488592
NM_022552.5(DNMT3A):c.1555-3T>C
NM_022552.5(DNMT3A):c.158G>A (p.Arg53Lys) rs2465902702
NM_022552.5(DNMT3A):c.1647C>G (p.Cys549Trp)
NM_022552.5(DNMT3A):c.164G>A (p.Arg55His) rs1457666600
NM_022552.5(DNMT3A):c.1668G>T (p.Arg556Ser)
NM_022552.5(DNMT3A):c.1675T>C (p.Cys559Arg) rs2465475600
NM_022552.5(DNMT3A):c.1684T>C (p.Cys562Arg) rs1057520788
NM_022552.5(DNMT3A):c.1711G>A (p.Ala571Thr)
NM_022552.5(DNMT3A):c.175C>T (p.Pro59Ser)
NM_022552.5(DNMT3A):c.1766A>G (p.Lys589Arg) rs1324043719
NM_022552.5(DNMT3A):c.1778G>A (p.Gly593Glu) rs2149289222
NM_022552.5(DNMT3A):c.177G>A (p.Pro59=)
NM_022552.5(DNMT3A):c.1790G>A (p.Arg597Gln) rs2465469683
NM_022552.5(DNMT3A):c.1817A>G (p.Gln606Arg) rs2465468526
NM_022552.5(DNMT3A):c.1895A>G (p.Lys632Arg) rs2149287247
NM_022552.5(DNMT3A):c.1910T>C (p.Leu637Pro) rs371523368
NM_022552.5(DNMT3A):c.191A>T (p.Asp64Val)
NM_022552.5(DNMT3A):c.1934C>T (p.Thr645Ile) rs1387749234
NM_022552.5(DNMT3A):c.1936+3G>A rs1283507922
NM_022552.5(DNMT3A):c.1937-18_1937-17delinsTC rs2465424647
NM_022552.5(DNMT3A):c.1945G>A (p.Val649Met)
NM_022552.5(DNMT3A):c.194C>T (p.Thr65Met) rs778149141
NM_022552.5(DNMT3A):c.2009T>C (p.Ile670Thr) rs2465420581
NM_022552.5(DNMT3A):c.2027G>A (p.Arg676Gln) rs769539104
NM_022552.5(DNMT3A):c.2062C>T (p.Arg688Cys) rs1484795800
NM_022552.5(DNMT3A):c.2083-15C>G
NM_022552.5(DNMT3A):c.2172C>T (p.Tyr724=)
NM_022552.5(DNMT3A):c.2174-7C>G
NM_022552.5(DNMT3A):c.2190CTT[1] (p.Phe732del) rs761103716
NM_022552.5(DNMT3A):c.2204A>C (p.Tyr735Ser) rs147828672
NM_022552.5(DNMT3A):c.2245C>A (p.Arg749Ser) rs754613602
NM_022552.5(DNMT3A):c.2259G>T (p.Trp753Cys)
NM_022552.5(DNMT3A):c.230C>T (p.Ser77Phe) rs2031973986
NM_022552.5(DNMT3A):c.232A>G (p.Met78Val) rs2465822722
NM_022552.5(DNMT3A):c.233T>C (p.Met78Thr) rs1558705159
NM_022552.5(DNMT3A):c.2405A>G (p.Asn802Ser)
NM_022552.5(DNMT3A):c.2416G>A (p.Ala806Thr) rs2149261310
NM_022552.5(DNMT3A):c.2438T>C (p.Leu813Pro) rs2465341949
NM_022552.5(DNMT3A):c.2446C>G (p.Gln816Glu) rs759187608
NM_022552.5(DNMT3A):c.2474C>T (p.Ala825Val) rs2465341281
NM_022552.5(DNMT3A):c.248G>A (p.Gly83Asp) rs2031972346
NM_022552.5(DNMT3A):c.2546C>A (p.Pro849His) rs1673285954
NM_022552.5(DNMT3A):c.2597+3A>G rs1302882446
NM_022552.5(DNMT3A):c.2598-1G>A
NM_022552.5(DNMT3A):c.2644C>A (p.Arg882Ser) rs377577594
NM_022552.5(DNMT3A):c.265C>T (p.Pro89Ser) rs2031969934
NM_022552.5(DNMT3A):c.2707G>C (p.Ala903Pro) rs749167103
NM_022552.5(DNMT3A):c.296C>T (p.Pro99Leu) rs2465822094
NM_022552.5(DNMT3A):c.364G>A (p.Ala122Thr) rs2149378900
NM_022552.5(DNMT3A):c.367G>C (p.Glu123Gln) rs1363297854
NM_022552.5(DNMT3A):c.371C>T (p.Thr124Ile) rs2031959193
NM_022552.5(DNMT3A):c.373C>G (p.Leu125Val) rs1053272861
NM_022552.5(DNMT3A):c.374T>C (p.Leu125Pro) rs2465821062
NM_022552.5(DNMT3A):c.389G>T (p.Arg130Ile)
NM_022552.5(DNMT3A):c.416C>G (p.Pro139Arg)
NM_022552.5(DNMT3A):c.475G>A (p.Glu159Lys) rs1274769751
NM_022552.5(DNMT3A):c.481A>G (p.Met161Val) rs574046229
NM_022552.5(DNMT3A):c.482T>A (p.Met161Lys) rs2031331537
NM_022552.5(DNMT3A):c.625C>G (p.Arg209Gly) rs2031271870
NM_022552.5(DNMT3A):c.625C>T (p.Arg209Cys) rs2031271870
NM_022552.5(DNMT3A):c.631A>G (p.Lys211Glu)
NM_022552.5(DNMT3A):c.645G>C (p.Glu215Asp) rs587778238
NM_022552.5(DNMT3A):c.656A>G (p.Lys219Arg) rs950156492
NM_022552.5(DNMT3A):c.662T>C (p.Ile221Thr) rs754994143
NM_022552.5(DNMT3A):c.68G>A (p.Arg23Gln) rs1174462913
NM_022552.5(DNMT3A):c.690C>G (p.Asn230Lys)
NM_022552.5(DNMT3A):c.72+4A>G
NM_022552.5(DNMT3A):c.722A>C (p.Glu241Ala)
NM_022552.5(DNMT3A):c.731C>A (p.Pro244His)
NM_022552.5(DNMT3A):c.733C>A (p.Pro245Thr) rs775861139
NM_022552.5(DNMT3A):c.806C>G (p.Ala269Gly) rs2149310396
NM_022552.5(DNMT3A):c.838G>T (p.Asp280Tyr) rs893934873
NM_022552.5(DNMT3A):c.855G>A (p.Glu285=) rs1573342453
NM_022552.5(DNMT3A):c.863G>A (p.Arg288Gln)
NM_022552.5(DNMT3A):c.89A>G (p.Glu30Gly) rs143730975
NM_022552.5(DNMT3A):c.911_913del (p.Ser304del) rs1674984864
NM_022552.5(DNMT3A):c.994G>A (p.Gly332Arg) rs760854242

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