List of variants in gene RAD50 reported as benign for Nijmegen breakage syndrome-like disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_005732.4(RAD50):c.551+19G>A	rs17166050	0.17902
NM_005732.4(RAD50):c.551+85A>G	rs75639632	0.02708
NM_005732.4(RAD50):c.2025C>T (p.Asp675=)	rs34147298	0.02660
NM_005732.4(RAD50):c.214-44G>A	rs74769721	0.02590
NM_005732.4(RAD50):c.1052-38C>T	rs104895045	0.01852
NM_005732.4(RAD50):c.3037-3T>C	rs115737081	0.00627
NM_005732.4(RAD50):c.572C>T (p.Thr191Ile)	rs2230017	0.00469
NM_005732.4(RAD50):c.2910C>T (p.Asp970=)	rs148269640	0.00422
NM_005732.4(RAD50):c.3153G>A (p.Leu1051=)	rs35800931	0.00325
NM_005732.4(RAD50):c.280A>C (p.Ile94Leu)	rs28903085	0.00300
NM_005732.4(RAD50):c.2670G>A (p.Gln890=)	rs112241748	0.00216
NM_005732.4(RAD50):c.2091C>T (p.Val697=)	rs61747588	0.00156
NM_005732.4(RAD50):c.379G>A (p.Val127Ile)	rs28903086	0.00146
NM_005732.4(RAD50):c.3165-4A>T	rs104895050	0.00133
NM_005732.4(RAD50):c.3036+5G>A	rs181016343	0.00078
NM_005732.4(RAD50):c.885+11G>A	rs117081789	0.00071
NM_005732.4(RAD50):c.260G>A (p.Arg87His)	rs374561375	0.00042
NM_005732.4(RAD50):c.3164+14del	rs148895884

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