ClinVar Miner

List of variants reported as benign for Cernunnos-XLF deficiency

Included ClinVar conditions (1):
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_024782.3(NHEJ1):c.390+18G>A rs6436120 0.92539
NM_024782.3(NHEJ1):c.40G>A (p.Ala14Thr) rs34689457 0.04477
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.258C>T (p.Asp86=) rs113689741 0.00240
NM_024782.3(NHEJ1):c.451A>C (p.Arg151=) rs141996352 0.00196
NM_024782.3(NHEJ1):c.707-7A>T rs150521220 0.00170
NM_024782.3(NHEJ1):c.36A>G (p.Pro12=) rs138515231 0.00078
NM_024782.3(NHEJ1):c.560A>G (p.Asn187Ser) rs146861504 0.00068
NM_024782.3(NHEJ1):c.826-13C>T rs190480146 0.00008
NM_024782.3(NHEJ1):c.441G>A (p.Gln147=) rs202229437 0.00003

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