ClinVar Miner

Variants in gene RAD50 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 58
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HGVS dbSNP gnomAD frequency
NM_005732.4(RAD50):c.980G>A (p.Arg327His) rs28903091 0.00207
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.671G>A (p.Arg224His) rs28903088 0.00065
NM_005732.4(RAD50):c.260G>A (p.Arg87His) rs374561375 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.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.205G>A (p.Asp69Asn) rs370769989 0.00004
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.282A>G (p.Ile94Met) rs786202847 0.00002
NM_005732.4(RAD50):c.1052-5A>T rs778261497 0.00001
NM_005732.4(RAD50):c.1166G>A (p.Ser389Asn) rs1193573653 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.3164+3A>G rs1275882210 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.1052-4A>G rs1561639434
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.1352G>A (p.Ser451Asn) rs755082861
NM_005732.4(RAD50):c.1453-4C>G rs747751038
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.1794-5T>G rs1554098579
NM_005732.4(RAD50):c.214-5C>G rs534966725
NM_005732.4(RAD50):c.2398-6_2398-4del rs1750932790
NM_005732.4(RAD50):c.2719-4T>A rs1474922117
NM_005732.4(RAD50):c.2738G>A (p.Ser913Asn) rs876659971
NM_005732.4(RAD50):c.2872A>G (p.Met958Val) rs570502111
NM_005732.4(RAD50):c.2944A>G (p.Lys982Glu) rs1581004859
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.757-4T>C rs1554098154
NM_005732.4(RAD50):c.828T>G (p.Asp276Glu) rs1232305395

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