ClinVar Miner

List of variants studied for Nijmegen breakage syndrome-like disorder by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_005732.4(RAD50):c.2397G>C (p.Gln799His) rs61749630 0.00036
NM_005732.4(RAD50):c.2647C>T (p.Arg883Cys) rs138749920 0.00032
NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln) rs146370443 0.00026
NM_005732.4(RAD50):c.2177G>A (p.Arg726His) rs28903092 0.00025
NM_005732.4(RAD50):c.1336A>G (p.Lys446Glu) rs149217423 0.00024
NM_005732.4(RAD50):c.1677C>T (p.His559=) rs142619269 0.00022
NM_005732.4(RAD50):c.2903G>A (p.Gly968Glu) rs199895166 0.00017
NM_005732.4(RAD50):c.1277A>G (p.Gln426Arg) rs145428112 0.00015
NM_005732.4(RAD50):c.1402G>A (p.Glu468Lys) rs145031602 0.00013
NM_005732.4(RAD50):c.2548C>T (p.Arg850Cys) rs181961360 0.00010
NM_005732.4(RAD50):c.265G>A (p.Val89Ile) rs151109830 0.00009
NM_005732.4(RAD50):c.3836G>A (p.Arg1279His) rs375710541 0.00007
NM_005732.4(RAD50):c.3880G>A (p.Asp1294Asn) rs587782339 0.00005
NM_005732.4(RAD50):c.1192A>G (p.Lys398Glu) rs756173890 0.00004
NM_005732.4(RAD50):c.1457G>A (p.Arg486His) rs776949511 0.00004
NM_005732.4(RAD50):c.1602A>G (p.Thr534=) rs150348197 0.00004
NM_005732.4(RAD50):c.2047G>A (p.Val683Ile) rs367925756 0.00004
NM_005732.4(RAD50):c.785T>G (p.Leu262Arg) rs201728859 0.00003
NM_005732.4(RAD50):c.1604G>A (p.Arg535His) rs200548021 0.00002
NM_005732.4(RAD50):c.2116C>T (p.Arg706Ter) rs772468452 0.00002
NM_005732.4(RAD50):c.217G>A (p.Ala73Thr) rs371122101 0.00002
NM_005732.4(RAD50):c.3229C>T (p.Arg1077Ter) rs368980595 0.00002
NM_005732.4(RAD50):c.3467G>A (p.Arg1156His) rs587780156 0.00002
NM_005732.4(RAD50):c.1237C>T (p.Gln413Ter) rs373428259 0.00001
NM_005732.4(RAD50):c.1721A>G (p.Lys574Arg) rs1386858430 0.00001
NM_005732.4(RAD50):c.1876G>A (p.Glu626Lys) rs763432574 0.00001
NM_005732.4(RAD50):c.214G>A (p.Val72Ile) rs118029772 0.00001
NM_005732.4(RAD50):c.2204T>A (p.Met735Lys) rs757043253 0.00001
NM_005732.4(RAD50):c.2209C>G (p.Gln737Glu) rs549559726 0.00001
NM_005732.4(RAD50):c.2492A>G (p.Glu831Gly) rs772155267 0.00001
NM_005732.4(RAD50):c.2530A>C (p.Ser844Arg) rs373817937 0.00001
NM_005732.4(RAD50):c.3206G>T (p.Arg1069Ile) rs769003601 0.00001
NM_005732.4(RAD50):c.344A>G (p.Glu115Gly) rs749567681 0.00001
NM_005732.4(RAD50):c.3779G>A (p.Arg1260His) rs367683141 0.00001
NM_005732.4(RAD50):c.586C>T (p.Arg196Cys) rs769853458 0.00001
NM_005732.4(RAD50):c.94dup (p.Thr32fs) rs587781625 0.00001
NM_005732.4(RAD50):c.119C>T (p.Ala40Val) rs1554096657
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.1580A>G (p.Gln527Arg) rs1554098420
NM_005732.4(RAD50):c.1677C>G (p.His559Gln) rs142619269
NM_005732.4(RAD50):c.1722dup (p.Gln575fs) rs587782543
NM_005732.4(RAD50):c.1966C>T (p.Arg656Ter) rs749466673
NM_005732.4(RAD50):c.2165dup (p.Glu723fs) rs397507178
NM_005732.4(RAD50):c.2789_2792del (p.Ile930fs) rs587781930
NM_005732.4(RAD50):c.2836G>A (p.Asp946Asn) rs766657227
NM_005732.4(RAD50):c.3270A>C (p.Lys1090Asn) rs1554099872
NM_005732.4(RAD50):c.3372T>A (p.Tyr1124Ter) rs775069541
NM_005732.4(RAD50):c.3612_3618+5del rs995265408
NM_005732.4(RAD50):c.3764G>A (p.Ser1255Asn) rs1202026618
NM_005732.4(RAD50):c.467T>G (p.Phe156Cys) rs1405344791
NM_005732.4(RAD50):c.904G>T (p.Glu302Ter) rs587782090

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