ClinVar Miner

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

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_024782.3(NHEJ1):c.748G>A (p.Asp250Asn) rs367766187 0.00009
NM_024782.3(NHEJ1):c.743G>C (p.Gly248Ala) rs199723096 0.00002
NM_024782.3(NHEJ1):c.768G>C (p.Gln256His) rs149249203 0.00001
NM_024782.3(NHEJ1):c.794C>T (p.Pro265Leu) rs770425392 0.00001
NM_024782.3(NHEJ1):c.825+3G>A rs750458375 0.00001
NM_024782.3(NHEJ1):c.722C>T (p.Ser241Leu) rs2106319547
NM_024782.3(NHEJ1):c.765C>A (p.Asn255Lys)
NM_024782.3(NHEJ1):c.777A>T (p.Gln259His)
NM_024782.3(NHEJ1):c.781G>A (p.Val261Ile)
NM_024782.3(NHEJ1):c.805_806delinsTT (p.Ala269Leu) rs2106319460
NM_024782.3(NHEJ1):c.818A>C (p.Glu273Ala) rs2106319449

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