ClinVar Miner

List of variants reported by Harris Lab, University of Minnesota

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ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_005732.4(RAD50):c.551+85A>G rs75639632 0.02708
NM_005732.4(RAD50):c.214-44G>A rs74769721 0.02590
NM_000249.4(MLH1):c.885-81G>C rs104894999 0.02021
NM_005732.4(RAD50):c.1052-38C>T rs104895045 0.01852
NM_005591.4(MRE11):c.1099-217A>G rs104895017 0.01545
NM_002485.5(NBN):c.703-29C>T rs104895034 0.01266
NM_020661.4(AICDA):c.210A>G (p.Leu70=) rs104894984 0.00916
NM_134424.4(RAD52):c.*395G>A rs104895058 0.00667
NM_134424.4(RAD52):c.186+89C>T rs104895071 0.00628
NM_002485.5(NBN):c.*401C>G rs104895030 0.00535
NM_000249.4(MLH1):c.791-79A>G rs104894998 0.00459
NM_002485.5(NBN):c.702+84G>C rs104895036 0.00405
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) rs35001569 0.00399
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249 0.00399
NM_134424.4(RAD52):c.467+21C>T rs104895070 0.00397
NM_005732.4(RAD50):c.2719-31A>G rs104895047 0.00344
NM_134424.4(RAD52):c.967+135G>T rs104895068 0.00321
NM_000251.2(MSH2):c.*392G>A rs104895029 0.00296
NM_020661.4(AICDA):c.*446G>A rs104894982 0.00275
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00266
NM_005591.4(MRE11):c.21-100T>A rs104895020 0.00236
NM_001983.4(ERCC1):c.843+357C>T rs104894988 0.00189
NM_134424.4(RAD52):c.467+86A>G rs104895069 0.00163
NM_005732.4(RAD50):c.3164+35C>T rs104895048 0.00156
NM_005732.4(RAD50):c.366-163T>C rs104895043 0.00156
NM_005591.4(MRE11):c.1995-94G>A rs104895012 0.00150
NM_005732.4(RAD50):c.3165-4A>T rs104895050 0.00133
NM_134424.4(RAD52):c.*453C>T rs104895057 0.00126
NM_005591.4(MRE11):c.1995-111G>T rs104895013 0.00123
NM_000249.4(MLH1):c.-7C>T rs104894994 0.00115
NM_002485.5(NBN):c.172-448A>G rs104895038 0.00115
NM_002485.5(NBN):c.481-168C>T rs104895037 0.00096
NM_134424.4(RAD52):c.*468C>T rs104895056 0.00071
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_020661.4(AICDA):c.*1934C>T rs104894981 0.00035
NM_001983.4(ERCC1):c.322-123G>A rs104894991 0.00034
NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys) rs104895016 0.00032
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_000249.4(MLH1):c.117-109A>G rs104894995 0.00025
NM_000251.3(MSH2):c.1661+176A>G rs104895025 0.00019
NM_001983.4(ERCC1):c.106-73A>G rs104894992 0.00014
NM_005591.4(MRE11):c.*656T>C rs104895009 0.00009
NM_005732.4(RAD50):c.3230G>A (p.Arg1077Gln) rs104895051 0.00005
NM_000251.3(MSH2):c.874A>T (p.Thr292Ser) rs104895022 0.00003
NM_001983.4(ERCC1):c.426-11G>A rs104894990 0.00003
NM_002485.5(NBN):c.702+126A>T rs104895035 0.00003
NM_134424.4(RAD52):c.*317G>A rs104895065 0.00002
NM_000249.4(MLH1):c.739T>G (p.Ser247Ala) rs63750948 0.00001
NM_000251.3(MSH2):c.1387-265A>G rs104895024 0.00001
NM_000251.3(MSH2):c.367-108A>C rs104895021 0.00001
NM_001641.4(APEX1):c.441C>T (p.Gly147=) rs104894987 0.00001
NM_005732.3(RAD50):c.-352G>A rs104895040 0.00001
NM_000249.3(MLH1):c.*281G>T rs104895003
NM_000249.4(MLH1):c.1226A>C (p.Gln409Pro) rs104895000
NM_000249.4(MLH1):c.1668-35G>A rs104895001
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.4(MLH1):c.1912G>A (p.Gly638Arg) rs63750549
NM_000249.4(MLH1):c.2180A>T (p.His727Leu) rs104895002
NM_000249.4(MLH1):c.788A>C (p.Asn263Thr) rs104894997
NM_000251.2(MSH2):c.*387C>A rs104895028
NM_000251.3(MSH2):c.*61T>A rs104895027
NM_000251.3(MSH2):c.1076+176A>G rs104895023
NM_000251.3(MSH2):c.2179G>T (p.Ala727Ser) rs104895026
NM_001641.3(APEX1):c.-326G>A rs104894986
NM_001983.4(ERCC1):c.106-83G>A rs104894993
NM_001983.4(ERCC1):c.774+64C>T rs104894989
NM_002485.5(NBN):c.1202C>G (p.Pro401Arg) rs104895033
NM_002485.5(NBN):c.1579G>T (p.Asp527Tyr) rs104895031
NM_002485.5(NBN):c.172-529G>A rs104895039
NM_005591.4(MRE11):c.*1228A>G rs104895007
NM_005591.4(MRE11):c.*1746G>T rs104895006
NM_005591.4(MRE11):c.*1776C>T rs104895005
NM_005591.4(MRE11):c.*1933G>T rs104895004
NM_005591.4(MRE11):c.*214T>G rs104895011
NM_005591.4(MRE11):c.*431G>T rs104895010
NM_005591.4(MRE11):c.*685C>T rs104895008
NM_005591.4(MRE11):c.1098+131A>C rs104895018
NM_005591.4(MRE11):c.1500+168A>G rs104895015
NM_005591.4(MRE11):c.1784-116C>G rs104895014
NM_005591.4(MRE11):c.845+86G>A rs104895019
NM_005732.4(RAD50):c.-284C>A rs104895041
NM_005732.4(RAD50):c.1114C>T (p.Gln372Ter) rs104895046
NM_005732.4(RAD50):c.213+73A>C rs104895042
NM_005732.4(RAD50):c.3165-155A>T rs104895049
NM_005732.4(RAD50):c.3618+90C>T rs104895052
NM_005732.4(RAD50):c.3684T>C (p.Ile1228=) rs104895053
NM_005732.4(RAD50):c.494C>A (p.Pro165His) rs104895044
NM_020661.4(AICDA):c.24G>T (p.Arg8=) rs104894985
NM_020661.4(AICDA):c.405A>G (p.Gln135=) rs104894983
NM_134424.4(RAD52):c.*1194C>T rs104895054
NM_134424.4(RAD52):c.*315T>A rs104895067
NM_134424.4(RAD52):c.*316G>C rs104895066
NM_134424.4(RAD52):c.*318C>A rs104895064
NM_134424.4(RAD52):c.*320C>A rs104895063
NM_134424.4(RAD52):c.*321C>A rs104895062
NM_134424.4(RAD52):c.*322T>A rs104895061
NM_134424.4(RAD52):c.*324G>A rs104895060
NM_134424.4(RAD52):c.*325C>G rs104895059
NM_134424.4(RAD52):c.*992T>G rs104895055

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