ClinVar Miner

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

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 24
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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.3036+5G>A rs181016343 0.00078
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.2397G>C (p.Gln799His) rs61749630 0.00036
NM_005732.4(RAD50):c.2647C>T (p.Arg883Cys) rs138749920 0.00032
NM_005732.4(RAD50):c.204C>T (p.His68=) rs28903084 0.00010
NM_005732.4(RAD50):c.2658A>G (p.Gln886=) rs768654795 0.00006
NM_005732.4(RAD50):c.2651G>A (p.Arg884His) rs558302979 0.00001
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.2352T>C (p.Ser784=) rs534731345
NM_005732.4(RAD50):c.2923-5dup rs2066742
NM_005732.4(RAD50):c.3164+14del rs148895884
NM_005732.4(RAD50):c.756+7del rs377720482

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