ClinVar Miner

List of variants studied for Brunner syndrome

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Total variants: 114
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HGVS dbSNP gnomAD frequency
NM_000240.4(MAOA):c.891G>T (p.Arg297=) rs6323 0.71997
NM_000240.4(MAOA):c.1410T>C (p.Asp470=) rs1137070 0.65298
NM_000240.4(MAOA):c.385A>C (p.Arg129=) rs1800464 0.17743
NM_000240.4(MAOA):c.306+16C>A rs148788403 0.01100
NM_000240.4(MAOA):c.1374+19G>A rs200078877 0.00388
NM_000240.4(MAOA):c.825G>A (p.Pro275=) rs138703731 0.00238
NM_000240.4(MAOA):c.515G>A (p.Arg172Gln) rs58524323 0.00220
NM_000240.4(MAOA):c.1165-13C>T rs184965368 0.00173
NM_000240.4(MAOA):c.1375-17T>C rs368285679 0.00050
NM_000240.4(MAOA):c.1526C>T (p.Thr509Ile) rs147298607 0.00034
NM_000240.4(MAOA):c.1441G>A (p.Val481Ile) rs183147374 0.00027
NM_000240.4(MAOA):c.1559A>G (p.Lys520Arg) rs1800466 0.00022
NM_000240.4(MAOA):c.1437+14C>T rs372158657 0.00020
NM_000240.4(MAOA):c.1438-3T>C rs202232897 0.00019
NM_000240.4(MAOA):c.1248G>A (p.Met416Ile) rs772161607 0.00016
NM_000240.4(MAOA):c.412-6C>G rs369122751 0.00011
NM_000240.4(MAOA):c.1262+6A>G rs765738971 0.00010
NM_000240.4(MAOA):c.805G>A (p.Val269Ile) rs150176511 0.00010
NM_000240.4(MAOA):c.109G>A (p.Val37Ile) rs779299641 0.00006
NM_000240.4(MAOA):c.1119C>A (p.Ile373=) rs200913136 0.00006
NM_000240.4(MAOA):c.1389C>T (p.Leu463=) rs771568228 0.00006
NM_000240.4(MAOA):c.412-13C>T rs763906089 0.00006
NM_000240.4(MAOA):c.1262+19G>A rs377168294 0.00005
NM_000240.4(MAOA):c.1262+18C>T rs372784589 0.00004
NM_000240.4(MAOA):c.374A>G (p.Asn125Ser) rs201799429 0.00004
NM_000240.4(MAOA):c.702C>T (p.Leu234=) rs370853887 0.00004
NM_000240.4(MAOA):c.956-8T>G rs780408416 0.00003
NM_000240.4(MAOA):c.1052+14G>A rs113551306 0.00002
NM_000240.4(MAOA):c.1262+7C>T rs773216160 0.00002
NM_000240.4(MAOA):c.255C>G (p.Gly85=) rs1601935224 0.00002
NM_000240.4(MAOA):c.30G>A (p.Ala10=) rs1347324620 0.00002
NM_000240.4(MAOA):c.402G>A (p.Met134Ile) rs771740634 0.00002
NM_000240.4(MAOA):c.482T>C (p.Ile161Thr) rs574432879 0.00002
NM_000240.4(MAOA):c.681C>T (p.Ser227=) rs758225239 0.00002
NM_000240.4(MAOA):c.703G>A (p.Gly235Arg) rs368201051 0.00002
NM_000240.4(MAOA):c.739G>A (p.Val247Ile) rs777420059 0.00002
NM_000240.4(MAOA):c.890G>A (p.Arg297Gln) rs780647851 0.00002
NM_000240.4(MAOA):c.1153G>A (p.Glu385Lys) rs778306070 0.00001
NM_000240.4(MAOA):c.1165-11C>T rs948692153 0.00001
NM_000240.4(MAOA):c.1223C>T (p.Thr408Met) rs2033963856 0.00001
NM_000240.4(MAOA):c.1488C>G (p.Pro496=) rs1569203097 0.00001
NM_000240.4(MAOA):c.1545G>T (p.Gly515=) rs1223537199 0.00001
NM_000240.4(MAOA):c.260A>G (p.Glu87Gly) rs747229681 0.00001
NM_000240.4(MAOA):c.325C>T (p.Arg109Trp) rs140295792 0.00001
NM_000240.4(MAOA):c.331G>A (p.Ala111Thr) rs755919316 0.00001
NM_000240.4(MAOA):c.816G>A (p.Ala272=) rs751223564 0.00001
NC_000023.10:g.(?_43515570)_(43603780_?)del
NC_000023.10:g.(?_43515590)_(43817891_?)del
NM_000240.4(MAOA):c.1052+17T>G
NM_000240.4(MAOA):c.1052+4G>C
NM_000240.4(MAOA):c.1053-10C>G rs1601948966
NM_000240.4(MAOA):c.1081C>G (p.Leu361Val)
NM_000240.4(MAOA):c.1094A>G (p.His365Arg)
NM_000240.4(MAOA):c.1106+15C>T
NM_000240.4(MAOA):c.1164+7A>C
NM_000240.4(MAOA):c.1165-18T>G
NM_000240.4(MAOA):c.1214del (p.Gly405fs) rs2147107556
NM_000240.4(MAOA):c.1215C>T (p.Gly405=)
NM_000240.4(MAOA):c.1253A>G (p.Gln418Arg)
NM_000240.4(MAOA):c.1263-16C>G
NM_000240.4(MAOA):c.1279G>A (p.Val427Met)
NM_000240.4(MAOA):c.1279G>T (p.Val427Leu)
NM_000240.4(MAOA):c.1299G>A (p.Ala433=)
NM_000240.4(MAOA):c.133C>T (p.Arg45Trp) rs796065312
NM_000240.4(MAOA):c.1361G>A (p.Arg454Gln) rs2033978967
NM_000240.4(MAOA):c.1375-14T>C
NM_000240.4(MAOA):c.1390G>A (p.Gly464Arg)
NM_000240.4(MAOA):c.1401C>T (p.Thr467=)
NM_000240.4(MAOA):c.1418T>C (p.Val473Ala)
NM_000240.4(MAOA):c.1437+11T>C
NM_000240.4(MAOA):c.1437+4A>T
NM_000240.4(MAOA):c.1440C>A (p.Asp480Glu) rs367715125
NM_000240.4(MAOA):c.1449G>A (p.Ala483=)
NM_000240.4(MAOA):c.1549G>C (p.Val517Leu)
NM_000240.4(MAOA):c.1564A>G (p.Lys522Glu)
NM_000240.4(MAOA):c.1567C>T (p.Leu523Phe) rs2033984974
NM_000240.4(MAOA):c.15G>A (p.Glu5=) rs2147066663
NM_000240.4(MAOA):c.163A>C (p.Ile55Leu)
NM_000240.4(MAOA):c.163A>G (p.Ile55Val)
NM_000240.4(MAOA):c.168+11_168+15del rs375984321
NM_000240.4(MAOA):c.186C>T (p.Tyr62=)
NM_000240.4(MAOA):c.188T>C (p.Val63Ala)
NM_000240.4(MAOA):c.290T>C (p.Leu97Pro) rs2147085459
NM_000240.4(MAOA):c.306+18C>A
NM_000240.4(MAOA):c.307-18T>C
NM_000240.4(MAOA):c.307-19G>C
NM_000240.4(MAOA):c.3G>A (p.Met1Ile) rs1601921232
NM_000240.4(MAOA):c.411+12G>A rs2033703535
NM_000240.4(MAOA):c.412-20G>A
NM_000240.4(MAOA):c.421G>A (p.Asp141Asn)
NM_000240.4(MAOA):c.56T>C (p.Ile19Thr)
NM_000240.4(MAOA):c.576G>T (p.Leu192=)
NM_000240.4(MAOA):c.635A>G (p.Asn212Ser)
NM_000240.4(MAOA):c.645+13T>A
NM_000240.4(MAOA):c.650G>A (p.Arg217Gln)
NM_000240.4(MAOA):c.73+19G>C
NM_000240.4(MAOA):c.730G>A (p.Val244Ile) rs1135401773
NM_000240.4(MAOA):c.732C>T (p.Val244=) rs980804164
NM_000240.4(MAOA):c.736C>A (p.His246Asn)
NM_000240.4(MAOA):c.74-6C>T rs1196492976
NM_000240.4(MAOA):c.74-9T>A
NM_000240.4(MAOA):c.749_750insT (p.Ser251fs) rs796065311
NM_000240.4(MAOA):c.766A>G (p.Ile256Val) rs2147102887
NM_000240.4(MAOA):c.774G>A (p.Thr258=)
NM_000240.4(MAOA):c.796-10T>C
NM_000240.4(MAOA):c.796-15T>G
NM_000240.4(MAOA):c.796-9G>A rs2033882536
NM_000240.4(MAOA):c.797G>T (p.Cys266Phe) rs587777457
NM_000240.4(MAOA):c.804C>T (p.Tyr268=)
NM_000240.4(MAOA):c.812A>G (p.Asn271Ser) rs2147103024
NM_000240.4(MAOA):c.831G>A (p.Leu277=)
NM_000240.4(MAOA):c.886C>T (p.Gln296Ter) rs72554632
NM_000240.4(MAOA):c.933G>A (p.Lys311=)
NM_000240.4(MAOA):c.955+4G>A

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