ClinVar Miner

List of variants reported as benign for Nijmegen breakage syndrome-like disorder by Counsyl

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_005732.4(RAD50):c.3846T>C (p.Tyr1282=) rs1804670 0.05209
NM_005732.4(RAD50):c.551+85A>G rs75639632 0.02708
NM_005732.4(RAD50):c.2025C>T (p.Asp675=) rs34147298 0.02660
NM_005732.4(RAD50):c.214-44G>A rs74769721 0.02590
NM_005732.4(RAD50):c.1052-38C>T rs104895045 0.01852
NM_005732.4(RAD50):c.3037-3T>C rs115737081 0.00627
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.3165-4A>T rs104895050 0.00133
NM_005732.4(RAD50):c.885+11G>A rs117081789 0.00071

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