List of variants in gene RAD50 reported as pathogenic for DNA repair disease

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: 41

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HGVS	dbSNP	gnomAD frequency
NM_005732.4(RAD50):c.687del (p.Ser229fs)	rs760146707	0.00042
NM_005732.4(RAD50):c.2498_2499del (p.Gln833fs)	rs587782895	0.00006
NM_005732.4(RAD50):c.3G>A (p.Met1Ile)	rs377260382	0.00004
NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter)	rs121912628	0.00003
NM_005732.4(RAD50):c.2014C>T (p.Gln672Ter)	rs142947311	0.00002
NM_005732.4(RAD50):c.2116C>T (p.Arg706Ter)	rs772468452	0.00002
NM_005732.4(RAD50):c.3229C>T (p.Arg1077Ter)	rs368980595	0.00002
NM_005732.4(RAD50):c.832C>T (p.Arg278Ter)	rs766315644	0.00002
NM_005732.4(RAD50):c.1093C>T (p.Arg365Ter)	rs1247689593	0.00001
NM_005732.4(RAD50):c.1237C>T (p.Gln413Ter)	rs373428259	0.00001
NM_005732.4(RAD50):c.1958C>A (p.Ser653Ter)	rs587781904	0.00001
NM_005732.4(RAD50):c.213+1G>T	rs765484171	0.00001
NM_005732.4(RAD50):c.2165_2166insT (p.Lys722fs)	rs587781454	0.00001
NM_005732.4(RAD50):c.2517dup (p.Asp840fs)	rs786201897	0.00001
NM_005732.4(RAD50):c.2770C>T (p.Gln924Ter)	rs1554099320	0.00001
NM_005732.4(RAD50):c.552-1G>A	rs1236278956	0.00001
NM_005732.4(RAD50):c.94dup (p.Thr32fs)	rs587781625	0.00001
NM_005732.4(RAD50):c.1174_1177del (p.Gln392fs)	rs1554098250
NM_005732.4(RAD50):c.1253_1254del (p.Phe418fs)	rs1060501954
NM_005732.4(RAD50):c.1270_1271del (p.Leu424fs)	rs587781327
NM_005732.4(RAD50):c.1393C>T (p.Gln465Ter)	rs587780150
NM_005732.4(RAD50):c.1620_1621insAG (p.Leu541fs)	rs764968413
NM_005732.4(RAD50):c.1631_1635+1del	rs1235022794
NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter)	rs149201802
NM_005732.4(RAD50):c.1969+1G>A	rs587782078
NM_005732.4(RAD50):c.2165dup (p.Glu723fs)	rs397507178
NM_005732.4(RAD50):c.2202del (p.Pro734_Met735insTer)	rs786201789
NM_005732.4(RAD50):c.2395C>T (p.Gln799Ter)	rs876658749
NM_005732.4(RAD50):c.2467C>T (p.Arg823Ter)	rs1060501936
NM_005732.4(RAD50):c.2524G>A (p.Val842Ile)	rs2149847342
NM_005732.4(RAD50):c.2620A>T (p.Lys874Ter)	rs2149847772
NM_005732.4(RAD50):c.2789_2792del (p.Ile930fs)	rs587781930
NM_005732.4(RAD50):c.2938_2942del (p.Glu979_Leu980insTer)	rs1060501942
NM_005732.4(RAD50):c.2944A>T (p.Lys982Ter)	rs1581004859
NM_005732.4(RAD50):c.2983_2986del (p.Glu995fs)	rs587780154
NM_005732.4(RAD50):c.3029_3032del (p.Thr1010fs)	rs1060501941
NM_005732.4(RAD50):c.3071del (p.Thr1023_Leu1024insTer)	rs753950483
NM_005732.4(RAD50):c.326_329del (p.Thr109fs)	rs587780155
NM_005732.4(RAD50):c.3389+1G>A	rs762648843
NM_005732.4(RAD50):c.551+2T>C	rs1580987375
NM_005732.4(RAD50):c.904G>T (p.Glu302Ter)	rs587782090

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