ClinVar Miner

List of variants studied for Nijmegen breakage syndrome-like disorder by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_005732.4(RAD50):c.2938_2942del (p.Glu979_Leu980insTer) rs1060501942
NM_005732.4(RAD50):c.3863G>C (p.Arg1288Thr) rs202098299

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