ClinVar Miner

List of variants in gene combination RAD50, TH2LCRR reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_005732.4(RAD50):c.3846T>C (p.Tyr1282=) rs1804670 0.05209
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=) rs28903094 0.00293
NM_005732.4(RAD50):c.3861C>T (p.Tyr1287=) rs368356436 0.00019
NM_005732.4(RAD50):c.3790C>T (p.Leu1264Phe) rs199579239 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.3877A>G (p.Ile1293Val) rs762702502 0.00003
NM_005732.4(RAD50):c.3789G>C (p.Gln1263His) rs115706334 0.00002
NM_005732.4(RAD50):c.3779G>A (p.Arg1260His) rs367683141 0.00001
NM_005732.4(RAD50):c.3807T>C (p.His1269=) rs755777007 0.00001
NM_005732.4(RAD50):c.3813A>G (p.Glu1271=) rs1302002047 0.00001
NM_005732.4(RAD50):c.3824A>G (p.Glu1275Gly) rs372924978 0.00001
NM_005732.4(RAD50):c.3835C>T (p.Arg1279Cys) rs786201810 0.00001
NM_005732.4(RAD50):c.3839C>G (p.Ser1280Cys) rs747522239 0.00001
NM_005732.4(RAD50):c.3876C>T (p.Asn1292=) rs1300783013 0.00001
NM_005732.4(RAD50):c.3882T>G (p.Asp1294Glu) rs587781426 0.00001
NM_005732.4(RAD50):c.3884A>G (p.Gln1295Arg) rs1045257429 0.00001
NM_005732.4(RAD50):c.3897T>A (p.Ile1299=) rs767384027 0.00001
NM_005732.4(RAD50):c.3902A>G (p.Lys1301Arg) rs201766077 0.00001
NM_005732.4(RAD50):c.3915C>T (p.Ser1305=) rs1183659259 0.00001
NM_005732.4(RAD50):c.3929A>G (p.Asn1310Ser) rs753468016 0.00001
NM_005732.4(RAD50):c.3930T>C (p.Asn1310=) rs878854803 0.00001
NM_005732.4(RAD50):c.3931G>A (p.Val1311Ile) rs863224743 0.00001
NM_005732.4(RAD50):c.3935A>G (p.His1312Arg) rs758732036 0.00001
NM_005732.4(RAD50):c.3939A>T (p.Ter1313Tyr) rs121912629 0.00001
NM_005732.4(RAD50):c.3772C>G (p.Gln1258Glu) rs863224741
NM_005732.4(RAD50):c.3774G>A (p.Gln1258=) rs1060504404
NM_005732.4(RAD50):c.3777G>A (p.Gln1259=) rs587780157
NM_005732.4(RAD50):c.3777G>T (p.Gln1259His) rs587780157
NM_005732.4(RAD50):c.3779del (p.Arg1260fs) rs786202259
NM_005732.4(RAD50):c.3780dup (p.Asn1261Ter) rs1581024951
NM_005732.4(RAD50):c.3781_3784dup (p.Phe1262Ter) rs1581024954
NM_005732.4(RAD50):c.3782A>G (p.Asn1261Ser)
NM_005732.4(RAD50):c.3783C>T (p.Asn1261=) rs1581024957
NM_005732.4(RAD50):c.3784_3786dup (p.Phe1262_Gln1263insPhe)
NM_005732.4(RAD50):c.3786C>G (p.Phe1262Leu) rs267600344
NM_005732.4(RAD50):c.3786C>T (p.Phe1262=) rs267600344
NM_005732.4(RAD50):c.3787C>T (p.Gln1263Ter) rs876659654
NM_005732.4(RAD50):c.3789G>A (p.Gln1263=) rs115706334
NM_005732.4(RAD50):c.3791T>C (p.Leu1264Pro) rs1561661794
NM_005732.4(RAD50):c.3793C>G (p.Leu1265Val)
NM_005732.4(RAD50):c.3796G>A (p.Val1266Ile) rs750133404
NM_005732.4(RAD50):c.3796G>C (p.Val1266Leu)
NM_005732.4(RAD50):c.3796_3809dup (p.Asp1270delinsGluTer)
NM_005732.4(RAD50):c.3798A>G (p.Val1266=)
NM_005732.4(RAD50):c.3799A>C (p.Ile1267Leu)
NM_005732.4(RAD50):c.3799A>G (p.Ile1267Val) rs1751739783
NM_005732.4(RAD50):c.3799dup (p.Ile1267fs) rs1554101324
NM_005732.4(RAD50):c.3800T>A (p.Ile1267Asn) rs1581025004
NM_005732.4(RAD50):c.3801C>T (p.Ile1267=) rs1554101325
NM_005732.4(RAD50):c.3805C>T (p.His1269Tyr) rs876659730
NM_005732.4(RAD50):c.3806A>C (p.His1269Pro)
NM_005732.4(RAD50):c.3806_3807del (p.His1269fs) rs1085307088
NM_005732.4(RAD50):c.3807T>G (p.His1269Gln)
NM_005732.4(RAD50):c.3809A>T (p.Asp1270Val) rs1581025025
NM_005732.4(RAD50):c.3810T>A (p.Asp1270Glu)
NM_005732.4(RAD50):c.3810T>C (p.Asp1270=) rs1486093198
NM_005732.4(RAD50):c.3811G>A (p.Glu1271Lys) rs1751740422
NM_005732.4(RAD50):c.3813A>T (p.Glu1271Asp)
NM_005732.4(RAD50):c.3813_3815del (p.Glu1271del) rs776601293
NM_005732.4(RAD50):c.3814G>C (p.Asp1272His) rs753091579
NM_005732.4(RAD50):c.3816T>G (p.Asp1272Glu) rs1581025045
NM_005732.4(RAD50):c.3817T>G (p.Phe1273Val) rs2149866931
NM_005732.4(RAD50):c.3818T>C (p.Phe1273Ser)
NM_005732.4(RAD50):c.3826C>T (p.Leu1276Phe)
NM_005732.4(RAD50):c.3827T>G (p.Leu1276Arg)
NM_005732.4(RAD50):c.3836G>T (p.Arg1279Leu) rs375710541
NM_005732.4(RAD50):c.3839del (p.Ser1280fs)
NM_005732.4(RAD50):c.3840T>C (p.Ser1280=)
NM_005732.4(RAD50):c.3841_3859del (p.Glu1281fs) rs1561661862
NM_005732.4(RAD50):c.3842A>C (p.Glu1281Ala) rs863224742
NM_005732.4(RAD50):c.3843A>G (p.Glu1281=) rs1581025084
NM_005732.4(RAD50):c.3844T>A (p.Tyr1282Asn) rs587782219
NM_005732.4(RAD50):c.3847G>A (p.Val1283Met) rs876659358
NM_005732.4(RAD50):c.3855A>G (p.Lys1285=) rs1581025096
NM_005732.4(RAD50):c.3857T>A (p.Phe1286Tyr) rs587781369
NM_005732.4(RAD50):c.3857T>C (p.Phe1286Ser) rs587781369
NM_005732.4(RAD50):c.3857T>G (p.Phe1286Cys) rs587781369
NM_005732.4(RAD50):c.3858C>A (p.Phe1286Leu) rs1581025102
NM_005732.4(RAD50):c.3863G>C (p.Arg1288Thr) rs202098299
NM_005732.4(RAD50):c.3863G>T (p.Arg1288Met) rs202098299
NM_005732.4(RAD50):c.3865A>T (p.Ile1289Phe) rs1751743610
NM_005732.4(RAD50):c.3866T>A (p.Ile1289Asn) rs1554101330
NM_005732.4(RAD50):c.3872_3893del (p.Lys1291fs) rs759582800
NM_005732.4(RAD50):c.3874A>G (p.Asn1292Asp) rs1554101333
NM_005732.4(RAD50):c.3877A>T (p.Ile1293Phe) rs762702502
NM_005732.4(RAD50):c.3877_3879dup (p.Ile1293dup) rs765370709
NM_005732.4(RAD50):c.3883C>T (p.Gln1295Ter) rs1330031894
NM_005732.4(RAD50):c.3888C>T (p.Cys1296=) rs1581025172
NM_005732.4(RAD50):c.3894G>T (p.Glu1298Asp) rs1751745380
NM_005732.4(RAD50):c.3895A>G (p.Ile1299Val)
NM_005732.4(RAD50):c.3897T>C (p.Ile1299=) rs767384027
NM_005732.4(RAD50):c.3898G>A (p.Val1300Met) rs1554101335
NM_005732.4(RAD50):c.3907A>G (p.Ser1303Gly) rs876659120
NM_005732.4(RAD50):c.3908G>A (p.Ser1303Asn) rs766044158
NM_005732.4(RAD50):c.3908G>C (p.Ser1303Thr) rs766044158
NM_005732.4(RAD50):c.3910G>A (p.Val1304Ile) rs1581025217
NM_005732.4(RAD50):c.3912T>C (p.Val1304=)
NM_005732.4(RAD50):c.3918C>G (p.Ser1306=) rs1554101337
NM_005732.4(RAD50):c.3922G>A (p.Gly1308Arg)
NM_005732.4(RAD50):c.3929A>C (p.Asn1310Thr) rs753468016
NM_005732.4(RAD50):c.3933T>C (p.Val1311=) rs876660513

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