ClinVar Miner

Variants in gene RAD50 with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
2247 1383 0 41 66 0 1 99

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 17 1 0 0
likely pathogenic 17 0 0 0 0
uncertain significance 1 0 0 63 11
likely benign 0 0 63 0 24
benign 0 0 11 24 0

All variants with conflicting interpretations #

Total variants: 99
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005732.4(RAD50):c.572C>T (p.Thr191Ile) rs2230017 0.00469
NM_005732.4(RAD50):c.2910C>T (p.Asp970=) rs148269640 0.00422
NM_005732.4(RAD50):c.3153G>A (p.Leu1051=) rs35800931 0.00325
NM_005732.4(RAD50):c.280A>C (p.Ile94Leu) rs28903085 0.00300
NM_005732.4(RAD50):c.2670G>A (p.Gln890=) rs112241748 0.00216
NM_005732.4(RAD50):c.980G>A (p.Arg327His) rs28903091 0.00207
NM_005732.4(RAD50):c.2091C>T (p.Val697=) rs61747588 0.00156
NM_005732.4(RAD50):c.379G>A (p.Val127Ile) rs28903086 0.00146
NM_005732.4(RAD50):c.943G>T (p.Val315Leu) rs28903090 0.00141
NM_005732.4(RAD50):c.3253A>G (p.Ile1085Val) rs143189763 0.00111
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser) rs147366706 0.00079
NM_005732.4(RAD50):c.3036+5G>A rs181016343 0.00078
NM_005732.4(RAD50):c.1544A>G (p.Asp515Gly) rs145843634 0.00076
NM_005732.4(RAD50):c.671G>A (p.Arg224His) rs28903088 0.00065
NM_005732.4(RAD50):c.921A>G (p.Leu307=) rs144639596 0.00062
NM_005732.4(RAD50):c.260G>A (p.Arg87His) rs374561375 0.00042
NM_005732.4(RAD50):c.687del (p.Ser229fs) rs760146707 0.00042
NM_005732.4(RAD50):c.2397G>C (p.Gln799His) rs61749630 0.00036
NM_005732.4(RAD50):c.2647C>T (p.Arg883Cys) rs138749920 0.00032
NM_005732.4(RAD50):c.1154G>A (p.Arg385His) rs150030986 0.00030
NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln) rs146370443 0.00026
NM_005732.4(RAD50):c.2288G>A (p.Arg763His) rs141989813 0.00026
NM_005732.4(RAD50):c.2177G>A (p.Arg726His) rs28903092 0.00025
NM_005732.4(RAD50):c.1336A>G (p.Lys446Glu) rs149217423 0.00024
NM_005732.4(RAD50):c.2525T>C (p.Val842Ala) rs28903093 0.00020
NM_005732.4(RAD50):c.1277A>G (p.Gln426Arg) rs145428112 0.00015
NM_005732.4(RAD50):c.204C>T (p.His68=) rs28903084 0.00010
NM_005732.4(RAD50):c.2548C>T (p.Arg850Cys) rs181961360 0.00010
NM_005732.4(RAD50):c.1211A>G (p.Gln404Arg) rs200017020 0.00009
NM_005732.4(RAD50):c.1911T>A (p.Asp637Glu) rs144749616 0.00007
NM_005732.4(RAD50):c.1663A>G (p.Ile555Val) rs201120953 0.00006
NM_005732.4(RAD50):c.2173C>T (p.Arg725Trp) rs369560280 0.00006
NM_005732.4(RAD50):c.2658A>G (p.Gln886=) rs768654795 0.00006
NM_005732.4(RAD50):c.1759A>C (p.Ile587Leu) rs138796822 0.00004
NM_005732.4(RAD50):c.205G>A (p.Asp69Asn) rs370769989 0.00004
NM_005732.4(RAD50):c.695C>A (p.Ala232Asp) rs28903089 0.00004
NM_005732.4(RAD50):c.2839A>G (p.Ile947Val) rs786203601 0.00003
NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter) rs121912628 0.00003
NM_005732.4(RAD50):c.39G>A (p.Arg13=) rs779005784 0.00003
NM_005732.4(RAD50):c.1216G>A (p.Gly406Arg) rs747951988 0.00002
NM_005732.4(RAD50):c.1720A>C (p.Lys574Gln) rs779597467 0.00002
NM_005732.4(RAD50):c.282A>G (p.Ile94Met) rs786202847 0.00002
NM_005732.4(RAD50):c.1052-5A>T rs778261497 0.00001
NM_005732.4(RAD50):c.1093C>T (p.Arg365Ter) rs1247689593 0.00001
NM_005732.4(RAD50):c.1166G>A (p.Ser389Asn) rs1193573653 0.00001
NM_005732.4(RAD50):c.1237C>T (p.Gln413Ter) rs373428259 0.00001
NM_005732.4(RAD50):c.123A>T (p.Gly41=) rs754054728 0.00001
NM_005732.4(RAD50):c.129+5G>A rs587781409 0.00001
NM_005732.4(RAD50):c.2092A>G (p.Ile698Val) rs781213977 0.00001
NM_005732.4(RAD50):c.2207+3A>G rs781305309 0.00001
NM_005732.4(RAD50):c.2530A>C (p.Ser844Arg) rs373817937 0.00001
NM_005732.4(RAD50):c.2566C>A (p.Gln856Lys) rs760006536 0.00001
NM_005732.4(RAD50):c.2651G>A (p.Arg884His) rs558302979 0.00001
NM_005732.4(RAD50):c.2923-5T>C rs1751042239 0.00001
NM_005732.4(RAD50):c.3164+3A>G rs1275882210 0.00001
NM_005732.4(RAD50):c.552-1G>A rs1236278956 0.00001
NM_005732.4(RAD50):c.756+2T>C rs764122619 0.00001
NM_005732.4(RAD50):c.756+5C>T rs587782827 0.00001
NM_005732.4(RAD50):c.885+5G>A rs200264387 0.00001
NM_005732.4(RAD50):c.94dup (p.Thr32fs) rs587781625 0.00001
NM_005732.4(RAD50):c.1007C>G (p.Ser336Cys) rs771068208
NM_005732.4(RAD50):c.1052-4A>G rs1561639434
NM_005732.4(RAD50):c.1174_1177del (p.Gln392fs) rs1554098250
NM_005732.4(RAD50):c.1190A>T (p.His397Leu) rs562153754
NM_005732.4(RAD50):c.1216G>C (p.Gly406Arg) rs747951988
NM_005732.4(RAD50):c.1270_1271del (p.Leu424fs) rs587781327
NM_005732.4(RAD50):c.1352G>A (p.Ser451Asn) rs755082861
NM_005732.4(RAD50):c.1453-4C>G rs747751038
NM_005732.4(RAD50):c.1620_1621insAG (p.Leu541fs) rs764968413
NM_005732.4(RAD50):c.1636-2A>G rs1554098466
NM_005732.4(RAD50):c.1677C>G (p.His559Gln) rs142619269
NM_005732.4(RAD50):c.1749A>G (p.Lys583=) rs2149842746
NM_005732.4(RAD50):c.1793+4A>C rs863224738
NM_005732.4(RAD50):c.1794-1G>T rs587781742
NM_005732.4(RAD50):c.1794-3dup rs1554098578
NM_005732.4(RAD50):c.1794-5T>G rs1554098579
NM_005732.4(RAD50):c.1875C>T (p.Tyr625=) rs149201802
NM_005732.4(RAD50):c.2121T>C (p.Leu707=) rs377625784
NM_005732.4(RAD50):c.214-5C>G rs534966725
NM_005732.4(RAD50):c.2202del (p.Pro734_Met735insTer) rs786201789
NM_005732.4(RAD50):c.2352T>C (p.Ser784=) rs534731345
NM_005732.4(RAD50):c.2398-6_2398-4del rs1750932790
NM_005732.4(RAD50):c.2467C>T (p.Arg823Ter) rs1060501936
NM_005732.4(RAD50):c.2719-4T>A rs1474922117
NM_005732.4(RAD50):c.2738G>A (p.Ser913Asn) rs876659971
NM_005732.4(RAD50):c.2789_2792del (p.Ile930fs) rs587781930
NM_005732.4(RAD50):c.2872A>G (p.Met958Val) rs570502111
NM_005732.4(RAD50):c.2923-5dup rs2066742
NM_005732.4(RAD50):c.2944A>G (p.Lys982Glu) rs1581004859
NM_005732.4(RAD50):c.3029_3032del (p.Thr1010fs) rs1060501941
NM_005732.4(RAD50):c.3164+14del rs148895884
NM_005732.4(RAD50):c.445G>T (p.Ala149Ser) rs2149837742
NM_005732.4(RAD50):c.477A>G (p.Gln159=) rs876660281
NM_005732.4(RAD50):c.5C>T (p.Ser2Phe) rs1554096631
NM_005732.4(RAD50):c.633A>G (p.Lys211=) rs1554097809
NM_005732.4(RAD50):c.756+2T>G rs764122619
NM_005732.4(RAD50):c.756+7del rs377720482
NM_005732.4(RAD50):c.757-4T>C rs1554098154
NM_005732.4(RAD50):c.828T>G (p.Asp276Glu) rs1232305395

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