ClinVar Miner

List of variants in gene RAD50 reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_005732.4(RAD50):c.1237C>T (p.Gln413Ter) rs373428259 0.00001
NM_005732.4(RAD50):c.2934_2935del (p.Glu979fs) rs768522804 0.00001
NM_005732.4(RAD50):c.552-1G>A rs1236278956 0.00001
NC_000005.9:g.(?_131892615)_(131980314_?)del
NM_005732.4(RAD50):c.1174_1177del (p.Gln392fs) rs1554098250
NM_005732.4(RAD50):c.2980A>T (p.Lys994Ter) rs876660364

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