ClinVar Miner

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

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_024782.3(NHEJ1):c.57A>G (p.Ala19=) rs61757394 0.00047
NM_024782.3(NHEJ1):c.837C>A (p.Gly279=) rs145592698 0.00010
NM_024782.3(NHEJ1):c.468A>G (p.Leu156=) rs768115441 0.00003
NM_024782.3(NHEJ1):c.465G>A (p.Thr155=) rs374664084 0.00002
NM_024782.3(NHEJ1):c.390+14G>A rs760019180 0.00001
NM_024782.3(NHEJ1):c.391-4A>G rs766853125 0.00001
NM_024782.3(NHEJ1):c.417G>A (p.Leu139=) rs370231557 0.00001
NM_024782.3(NHEJ1):c.529+8G>C rs376407655 0.00001
NM_024782.3(NHEJ1):c.529+9A>T rs749513419 0.00001
NM_024782.3(NHEJ1):c.123T>G (p.Leu41=)
NM_024782.3(NHEJ1):c.150C>T (p.Asp50=)
NM_024782.3(NHEJ1):c.15G>A (p.Glu5=)
NM_024782.3(NHEJ1):c.177+15A>C
NM_024782.3(NHEJ1):c.178-11T>C rs1335578048
NM_024782.3(NHEJ1):c.178-6C>G
NM_024782.3(NHEJ1):c.219C>A (p.Leu73=)
NM_024782.3(NHEJ1):c.219C>G (p.Leu73=) rs144535601
NM_024782.3(NHEJ1):c.246A>G (p.Pro82=)
NM_024782.3(NHEJ1):c.24G>A (p.Leu8=)
NM_024782.3(NHEJ1):c.270T>C (p.Pro90=)
NM_024782.3(NHEJ1):c.294T>C (p.Asp98=)
NM_024782.3(NHEJ1):c.369C>T (p.Cys123=)
NM_024782.3(NHEJ1):c.381T>C (p.Ser127=)
NM_024782.3(NHEJ1):c.390+9A>G
NM_024782.3(NHEJ1):c.42G>A (p.Ala14=) rs1307549197
NM_024782.3(NHEJ1):c.42G>T (p.Ala14=)
NM_024782.3(NHEJ1):c.438A>G (p.Leu146=) rs2106362357
NM_024782.3(NHEJ1):c.457C>T (p.Leu153=)
NM_024782.3(NHEJ1):c.513G>C (p.Gly171=) rs759426248
NM_024782.3(NHEJ1):c.513G>T (p.Gly171=) rs759426248
NM_024782.3(NHEJ1):c.529+11A>G rs2106362226
NM_024782.3(NHEJ1):c.529+18G>C
NM_024782.3(NHEJ1):c.558A>G (p.Glu186=)
NM_024782.3(NHEJ1):c.589-11C>G
NM_024782.3(NHEJ1):c.589-14C>A rs1432657602
NM_024782.3(NHEJ1):c.589-14C>T
NM_024782.3(NHEJ1):c.589-6T>A rs2106320191
NM_024782.3(NHEJ1):c.589-7C>G rs2106320193
NM_024782.3(NHEJ1):c.597A>G (p.Pro199=) rs1259490602
NM_024782.3(NHEJ1):c.600G>A (p.Glu200=)
NM_024782.3(NHEJ1):c.603A>G (p.Ala201=) rs2106320167
NM_024782.3(NHEJ1):c.606C>T (p.Cys202=) rs2106320164
NM_024782.3(NHEJ1):c.642G>A (p.Leu214=) rs774224764
NM_024782.3(NHEJ1):c.642G>T (p.Leu214=) rs774224764
NM_024782.3(NHEJ1):c.684G>A (p.Val228=)
NM_024782.3(NHEJ1):c.834A>C (p.Ser278=)
NM_024782.3(NHEJ1):c.9A>G (p.Glu3=) rs1392400000

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