ClinVar Miner

List of variants reported as pathogenic for Cernunnos-XLF deficiency

Included ClinVar conditions (1):
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NC_000002.11:g.(?_220011382)_(220011480_?)del
NM_024782.3(NHEJ1):c.11dup (p.Glu5fs) rs886037607
NM_024782.3(NHEJ1):c.134G>A (p.Trp45Ter)
NM_024782.3(NHEJ1):c.169C>G (p.Arg57Gly) rs118204451
NM_024782.3(NHEJ1):c.169C>T (p.Arg57Ter) rs118204451
NM_024782.3(NHEJ1):c.177+1_177+3delinsTT rs886037606
NM_024782.3(NHEJ1):c.233dup (p.Asn78fs)
NM_024782.3(NHEJ1):c.236T>C (p.Leu79Pro)
NM_024782.3(NHEJ1):c.367T>C (p.Cys123Arg) rs118204452
NM_024782.3(NHEJ1):c.369C>A (p.Cys123Ter) rs1949865586
NM_024782.3(NHEJ1):c.526C>T (p.Arg176Ter)
NM_024782.3(NHEJ1):c.530-2A>T rs1064793763
NM_024782.3(NHEJ1):c.532C>T (p.Arg178Ter) rs118204453
NM_024782.3(NHEJ1):c.546del (p.Glu182fs)
NM_024782.3(NHEJ1):c.569_570insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGTCCTCGTGATACGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAAAATTCCTTCTT (p.Leu190fs)
NM_024782.3(NHEJ1):c.643C>T (p.Gln215Ter) rs1553542017
NM_024782.3(NHEJ1):c.670_671del (p.Gln224fs) rs2106320090
NM_024782.3(NHEJ1):c.75_78dup (p.Val27fs)
NM_024782.3(NHEJ1):c.75del (p.Lys26fs)
NM_024782.3(NHEJ1):c.94C>T (p.Gln32Ter)

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