ClinVar Miner

List of variants studied for Nijmegen breakage syndrome-like disorder by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_005732.4(RAD50):c.1174_1177del (p.Gln392fs) rs1554098250
NM_005732.4(RAD50):c.2980A>T (p.Lys994Ter) rs876660364

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