ClinVar Miner

List of variants in gene RAD50 reported as pathogenic by Quest Diagnostics Nichols Institute San Juan Capistrano

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_005732.4(RAD50):c.1280_1283del (p.Lys427fs) rs2479636783
NM_005732.4(RAD50):c.1722dup (p.Gln575fs) rs587782543
NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter) rs149201802
NM_005732.4(RAD50):c.1966C>T (p.Arg656Ter) rs749466673
NM_005732.4(RAD50):c.2165dup (p.Glu723fs) rs397507178
NM_005732.4(RAD50):c.2202del (p.Pro734_Met735insTer) rs786201789
NM_005732.4(RAD50):c.2517dup (p.Asp840fs) rs786201897
NM_005732.4(RAD50):c.2980A>T (p.Lys994Ter) rs876660364
NM_005732.4(RAD50):c.541dup (p.Ser181fs) rs786201531

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