ClinVar Miner

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

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Gene type:
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Total variants: 38
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HGVS dbSNP gnomAD frequency
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.980G>A (p.Arg327His) rs28903091 0.00207
NM_005732.4(RAD50):c.3165-8T>G rs369581851 0.00189
NM_005732.4(RAD50):c.2091C>T (p.Val697=) rs61747588 0.00156
NM_005732.4(RAD50):c.943G>T (p.Val315Leu) rs28903090 0.00141
NM_005732.4(RAD50):c.3253A>G (p.Ile1085Val) rs143189763 0.00111
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser) rs147366706 0.00079
NM_005732.4(RAD50):c.671G>A (p.Arg224His) rs28903088 0.00065
NM_005732.4(RAD50):c.2647C>T (p.Arg883Cys) rs138749920 0.00032
NM_005732.4(RAD50):c.2288G>A (p.Arg763His) rs141989813 0.00026
NM_005732.4(RAD50):c.1677C>T (p.His559=) rs142619269 0.00022
NM_005732.4(RAD50):c.204C>T (p.His68=) rs28903084 0.00010
NM_005732.4(RAD50):c.2548C>T (p.Arg850Cys) rs181961360 0.00010
NM_005732.4(RAD50):c.130-10A>G rs200760698 0.00006
NM_005732.4(RAD50):c.2658A>G (p.Gln886=) rs768654795 0.00006
NM_005732.4(RAD50):c.3342A>G (p.Thr1114=) rs776513888 0.00006
NM_005732.4(RAD50):c.426T>C (p.Ser142=) rs368752746 0.00005
NM_005732.4(RAD50):c.1602A>G (p.Thr534=) rs150348197 0.00004
NM_005732.4(RAD50):c.2046C>T (p.Pro682=) rs759476003 0.00004
NM_005732.4(RAD50):c.1992A>G (p.Ala664=) rs773126534 0.00002
NM_005732.4(RAD50):c.2113C>T (p.Leu705=) rs779776271 0.00002
NM_005732.4(RAD50):c.2298C>T (p.Asn766=) rs144186349 0.00002
NM_005732.4(RAD50):c.282A>G (p.Ile94Met) rs786202847 0.00002
NM_005732.4(RAD50):c.1052-16del rs757412385 0.00001
NM_005732.4(RAD50):c.2923-7T>C rs1329253830 0.00001
NM_005732.4(RAD50):c.3037-6C>T rs1209508205 0.00001
NM_005732.4(RAD50):c.886-11G>T rs562817115 0.00001
NM_005732.4(RAD50):c.1143T>C (p.Asp381=) rs1750643562
NM_005732.4(RAD50):c.1246-11T>C rs746985455
NM_005732.4(RAD50):c.1246-8G>T rs776650264
NM_005732.4(RAD50):c.1284G>A (p.Gln428=) rs786201152
NM_005732.4(RAD50):c.1692C>G (p.Thr564=) rs876660850
NM_005732.4(RAD50):c.3164+14del rs148895884
NM_005732.4(RAD50):c.3164+22_3164+25dup rs536987915
NM_005732.4(RAD50):c.351C>A (p.Val117=) rs878854800
NM_005732.4(RAD50):c.363A>G (p.Thr121=) rs1750390315
NM_005732.4(RAD50):c.756+7del rs377720482

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