ClinVar Miner

List of variants in gene RAD50, TH2LCRR studied for Nijmegen breakage syndrome-like disorder

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Total variants: 6
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HGVS dbSNP
NM_005732.3(RAD50):c.3790C>T (p.Leu1264Phe) rs199579239
NM_005732.3(RAD50):c.3806_3807delAT (p.His1269Argfs) rs1085307088
NM_005732.3(RAD50):c.3836G>A (p.Arg1279His) rs375710541
NM_005732.3(RAD50):c.3846T>C (p.Tyr1282=) rs1804670
NM_005732.3(RAD50):c.3879C>T (p.Ile1293=) rs28903094
NM_005732.3(RAD50):c.3939A>T (p.Ter1313Tyr) rs121912629

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