ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_024782.3(NHEJ1):c.242G>A (p.Arg81His) rs140362488 0.00066
NM_024782.3(NHEJ1):c.259G>A (p.Ala87Thr) rs150307533 0.00024
NM_024782.3(NHEJ1):c.170G>A (p.Arg57Gln) rs61753339 0.00022
NM_024782.3(NHEJ1):c.860C>T (p.Ser287Leu) rs760280185 0.00014
NM_024782.3(NHEJ1):c.703G>A (p.Ala235Thr) rs375778719 0.00008
NM_024782.3(NHEJ1):c.830C>T (p.Thr277Ile) rs145834367 0.00007
NM_024782.3(NHEJ1):c.229G>T (p.Asp77Tyr) rs774491145 0.00006
NM_024782.3(NHEJ1):c.30G>A (p.Met10Ile) rs370275980 0.00006
NM_024782.3(NHEJ1):c.41C>T (p.Ala14Val) rs747032828 0.00006
NM_024782.3(NHEJ1):c.896G>A (p.Ser299Asn) rs370636072 0.00005
NM_024782.3(NHEJ1):c.299T>C (p.Val100Ala) rs201186145 0.00004
NM_024782.3(NHEJ1):c.172G>T (p.Ala58Ser) rs142684479 0.00003
NM_024782.3(NHEJ1):c.326G>A (p.Arg109Gln) rs777365329 0.00002
NM_024782.3(NHEJ1):c.448G>A (p.Val150Met) rs758387082 0.00002
NM_024782.3(NHEJ1):c.533G>A (p.Arg178Gln) rs1949744959 0.00002
NM_024782.3(NHEJ1):c.112G>A (p.Val38Ile) rs1193921312 0.00001
NM_024782.3(NHEJ1):c.256G>A (p.Asp86Asn) rs976825540 0.00001
NM_024782.3(NHEJ1):c.274G>A (p.Glu92Lys) rs754840549 0.00001
NM_024782.3(NHEJ1):c.351C>G (p.Phe117Leu) rs1249067213 0.00001
NM_024782.3(NHEJ1):c.464C>T (p.Thr155Met) rs756563868 0.00001
NM_024782.3(NHEJ1):c.557A>G (p.Glu186Gly) rs780016182 0.00001
NM_024782.3(NHEJ1):c.588+5G>A rs369012414 0.00001
NM_024782.3(NHEJ1):c.616G>A (p.Asp206Asn) rs1474143340 0.00001
NM_024782.3(NHEJ1):c.655A>G (p.Met219Val) rs771103739 0.00001
NM_024782.3(NHEJ1):c.700G>A (p.Gly234Ser) rs191958428 0.00001
NM_024782.3(NHEJ1):c.701G>A (p.Gly234Asp) rs779328166 0.00001
NM_024782.3(NHEJ1):c.702C>T (p.Gly234=) rs754484855 0.00001
NM_024782.3(NHEJ1):c.108G>C (p.Leu36Phe) rs2106369733
NM_024782.3(NHEJ1):c.122T>G (p.Leu41Arg)
NM_024782.3(NHEJ1):c.13G>A (p.Glu5Lys)
NM_024782.3(NHEJ1):c.151A>G (p.Thr51Ala)
NM_024782.3(NHEJ1):c.169C>G (p.Arg57Gly) rs118204451
NM_024782.3(NHEJ1):c.177G>A (p.Lys59=) rs756996341
NM_024782.3(NHEJ1):c.191G>A (p.Arg64Gln)
NM_024782.3(NHEJ1):c.200C>G (p.Ala67Gly)
NM_024782.3(NHEJ1):c.205C>A (p.Pro69Thr)
NM_024782.3(NHEJ1):c.230A>G (p.Asp77Gly)
NM_024782.3(NHEJ1):c.238C>T (p.Leu80Phe)
NM_024782.3(NHEJ1):c.329G>C (p.Ser110Thr)
NM_024782.3(NHEJ1):c.346C>G (p.Pro116Ala) rs1024943702
NM_024782.3(NHEJ1):c.401A>G (p.His134Arg) rs2106362378
NM_024782.3(NHEJ1):c.460G>A (p.Ala154Thr)
NM_024782.3(NHEJ1):c.469C>T (p.Leu157Phe) rs2106362310
NM_024782.3(NHEJ1):c.475A>G (p.Met159Val)
NM_024782.3(NHEJ1):c.499T>C (p.Tyr167His) rs762584679
NM_024782.3(NHEJ1):c.500A>G (p.Tyr167Cys)
NM_024782.3(NHEJ1):c.506A>G (p.Glu169Gly) rs1244437243
NM_024782.3(NHEJ1):c.518C>T (p.Thr173Met)
NM_024782.3(NHEJ1):c.52C>G (p.Leu18Val) rs2106369790
NM_024782.3(NHEJ1):c.547C>T (p.Pro183Ser) rs372722590
NM_024782.3(NHEJ1):c.553G>A (p.Glu185Lys) rs2106361576
NM_024782.3(NHEJ1):c.577T>C (p.Phe193Leu) rs2106361542
NM_024782.3(NHEJ1):c.584T>C (p.Ile195Thr)
NM_024782.3(NHEJ1):c.599A>C (p.Glu200Ala) rs2106320174
NM_024782.3(NHEJ1):c.638A>G (p.Asn213Ser) rs2106320135
NM_024782.3(NHEJ1):c.641T>C (p.Leu214Pro) rs2106320129
NM_024782.3(NHEJ1):c.653A>G (p.Tyr218Cys)
NM_024782.3(NHEJ1):c.67C>T (p.Leu23Phe)
NM_024782.3(NHEJ1):c.681A>G (p.Gln227=) rs1949031096
NM_024782.3(NHEJ1):c.842T>C (p.Leu281Pro) rs1375879411
NM_024782.3(NHEJ1):c.895A>G (p.Ser299Gly) rs2106318888

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