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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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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.258C>T (p.Asp86=)	rs113689741	0.00240
NM_024782.3(NHEJ1):c.451A>C (p.Arg151=)	rs141996352	0.00196
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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