ClinVar Miner

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

Included ClinVar conditions (1):
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Gene type:
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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_024782.3(NHEJ1):c.706+7C>A rs6720495 0.01756
NM_024782.3(NHEJ1):c.767A>T (p.Gln256Leu) rs35270667 0.01058
NM_024782.3(NHEJ1):c.707-7A>T rs150521220 0.00170

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