ClinVar Miner

List of variants in gene combination LOC126806516, NHEJ1 reported as likely benign for Cernunnos-XLF deficiency

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_024782.3(NHEJ1):c.747C>T (p.Ile249=) rs142143860 0.00034
NM_024782.3(NHEJ1):c.783C>G (p.Val261=) rs374469478 0.00011
NM_024782.3(NHEJ1):c.706+15G>A rs757046280
NM_024782.3(NHEJ1):c.707-8G>A rs1574697770
NM_024782.3(NHEJ1):c.753C>T (p.Ser251=)
NM_024782.3(NHEJ1):c.762A>G (p.Val254=) rs2106319497

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