ClinVar Miner

List of variants in gene RAD50 reported as pathogenic by GeneDx

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Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_005732.3(RAD50):c.1300_1306dupGATAAGA (p.Lys436Argfs) rs587780147
NM_005732.3(RAD50):c.1393C>T (p.Gln465Ter) rs587780150
NM_005732.3(RAD50):c.2929_2932delGAAA (p.Glu977Leufs) rs587780153
NM_005732.3(RAD50):c.2983_2986delGAAA (p.Glu995Argfs) rs587780154
NM_005732.3(RAD50):c.326_329delCAGA (p.Thr109Asnfs) rs587780155
NM_005732.3(RAD50):c.3372T>A (p.Tyr1124Ter) rs775069541
NM_005732.3(RAD50):c.3G>A (p.Met1Ile) rs377260382

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