ClinVar Miner

List of variants in gene RAD50 reported as likely pathogenic

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Gene type:
ClinVar version:
Total variants: 145
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HGVS dbSNP gnomAD frequency
NM_005732.4(RAD50):c.687del (p.Ser229fs) rs760146707 0.00042
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.412C>T (p.Arg138Ter) rs786203485 0.00003
NM_005732.4(RAD50):c.3229C>T (p.Arg1077Ter) rs368980595 0.00002
NM_005732.4(RAD50):c.1052-2A>C rs876660957 0.00001
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.129+1G>T rs1339714611 0.00001
NM_005732.4(RAD50):c.129+2T>A rs748086984 0.00001
NM_005732.4(RAD50):c.130-1G>T rs876658784 0.00001
NM_005732.4(RAD50):c.1793+1G>C rs1356107538 0.00001
NM_005732.4(RAD50):c.1794-1G>A rs587781742 0.00001
NM_005732.4(RAD50):c.193dup (p.Thr65fs) rs1750079483 0.00001
NM_005732.4(RAD50):c.213+1G>T rs765484171 0.00001
NM_005732.4(RAD50):c.2934_2935del (p.Glu979fs) rs768522804 0.00001
NM_005732.4(RAD50):c.3050G>A (p.Trp1017Ter) rs1554099776 0.00001
NM_005732.4(RAD50):c.3164+1G>T rs786203805 0.00001
NM_005732.4(RAD50):c.323A>G (p.Lys108Arg) rs542347773 0.00001
NM_005732.4(RAD50):c.552-1G>A rs1236278956 0.00001
NM_005732.4(RAD50):c.676C>T (p.Gln226Ter) rs377429225 0.00001
NM_005732.4(RAD50):c.756+2T>C rs764122619 0.00001
NM_005732.4(RAD50):c.94dup (p.Thr32fs) rs587781625 0.00001
GRCh37/hg19 5q31.1(chr5:131922768-131924818)x1
NC_000005.10:g.(?_132575771)_(132580072_?)del
NC_000005.10:g.(?_132579307)_(132605009_?)dup
NC_000005.10:g.(?_132603910)_(132618304_?)dup
NC_000005.9:g.(?_131892615)_(131980314_?)del
NC_000005.9:g.(?_131973767)_(131973921_?)dup
NM_005732.3(RAD50):c.3476-?_3618+?dup
NM_005732.3:c.2291_2292insALU
NM_005732.4(RAD50):c.1051+1G>A rs2149840720
NM_005732.4(RAD50):c.1052-1G>A rs1750640480
NM_005732.4(RAD50):c.1052-1G>T rs1750640480
NM_005732.4(RAD50):c.1052dup
NM_005732.4(RAD50):c.1114C>T (p.Gln372Ter) rs104895046
NM_005732.4(RAD50):c.1174_1177del (p.Gln392fs) rs1554098250
NM_005732.4(RAD50):c.1208_1209dup (p.Gln404fs) rs786203655
NM_005732.4(RAD50):c.1238_1241del (p.Gln413fs) rs1750646869
NM_005732.4(RAD50):c.1245+1G>A rs1561639636
NM_005732.4(RAD50):c.1262_1265del (p.Lys421fs)
NM_005732.4(RAD50):c.1270_1271del (p.Leu424fs) rs587781327
NM_005732.4(RAD50):c.129+1G>A
NM_005732.4(RAD50):c.129+1G>C
NM_005732.4(RAD50):c.129+2T>C
NM_005732.4(RAD50):c.1295_1296del (p.Ile432fs)
NM_005732.4(RAD50):c.12_13delinsTT (p.Glu5Ter)
NM_005732.4(RAD50):c.130-1G>A rs876658784
NM_005732.4(RAD50):c.130-1G>C
NM_005732.4(RAD50):c.130-2A>G rs1561628206
NM_005732.4(RAD50):c.1360C>T (p.Gln454Ter) rs758641567
NM_005732.4(RAD50):c.1381A>T (p.Lys461Ter) rs1580993516
NM_005732.4(RAD50):c.139G>T (p.Glu47Ter) rs1750077980
NM_005732.4(RAD50):c.1405G>T (p.Gly469Ter) rs1561640129
NM_005732.4(RAD50):c.1435C>T (p.Gln479Ter)
NM_005732.4(RAD50):c.1452+1G>A rs1750667558
NM_005732.4(RAD50):c.1452+2T>C rs2149841600
NM_005732.4(RAD50):c.1620_1621insAG (p.Leu541fs) rs764968413
NM_005732.4(RAD50):c.1635dup (p.Ala546fs) rs1750698269
NM_005732.4(RAD50):c.1636-1G>A rs1750705894
NM_005732.4(RAD50):c.1636-2A>G rs1554098466
NM_005732.4(RAD50):c.1722dup (p.Gln575fs) rs587782543
NM_005732.4(RAD50):c.1774del (p.Asp592fs) rs757261714
NM_005732.4(RAD50):c.1793+1del
NM_005732.4(RAD50):c.1793+4A>G
NM_005732.4(RAD50):c.1794-1G>T rs587781742
NM_005732.4(RAD50):c.183del (p.Gly63fs) rs1554096791
NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter) rs149201802
NM_005732.4(RAD50):c.1876G>T (p.Glu626Ter)
NM_005732.4(RAD50):c.1966C>T (p.Arg656Ter) rs749466673
NM_005732.4(RAD50):c.1969+1G>A rs587782078
NM_005732.4(RAD50):c.1969+1G>C rs587782078
NM_005732.4(RAD50):c.1970-1G>A rs1554098662
NM_005732.4(RAD50):c.1970-2A>G rs876660728
NM_005732.4(RAD50):c.1A>G (p.Met1Val) rs876658212
NM_005732.4(RAD50):c.2026G>T (p.Glu676Ter) rs773761143
NM_005732.4(RAD50):c.2046del (p.Val683fs)
NM_005732.4(RAD50):c.2050dup (p.Cys684fs)
NM_005732.4(RAD50):c.2095_2113dup (p.Leu705delinsGlnTer) rs1750779319
NM_005732.4(RAD50):c.2099_2100del (p.Asp700fs) rs2149844146
NM_005732.4(RAD50):c.214-1G>A
NM_005732.4(RAD50):c.214-2A>T rs1750384287
NM_005732.4(RAD50):c.2156_2207+3332del
NM_005732.4(RAD50):c.2202del (p.Pro734_Met735insTer) rs786201789
NM_005732.4(RAD50):c.2207+1G>A
NM_005732.4(RAD50):c.2314del (p.Glu772fs) rs1554099106
NM_005732.4(RAD50):c.2367_2375del (p.Asp791_Thr793del)
NM_005732.4(RAD50):c.2397+1G>A rs1750926104
NM_005732.4(RAD50):c.2467C>T (p.Arg823Ter) rs1060501936
NM_005732.4(RAD50):c.2524+1G>A rs1581001575
NM_005732.4(RAD50):c.2524+1G>T rs1581001575
NM_005732.4(RAD50):c.2524+1_2524+9del
NM_005732.4(RAD50):c.2525-1G>A rs1015686770
NM_005732.4(RAD50):c.2525-1G>C rs1015686770
NM_005732.4(RAD50):c.2525-1G>T rs1015686770
NM_005732.4(RAD50):c.263_365+47delinsCAAAAAGAC rs1580985027
NM_005732.4(RAD50):c.2718+1G>T rs556830991
NM_005732.4(RAD50):c.2718+1_2718+5del rs876659158
NM_005732.4(RAD50):c.2718G>T (p.Lys906Asn)
NM_005732.4(RAD50):c.2719-1G>T
NM_005732.4(RAD50):c.2725A>T (p.Lys909Ter)
NM_005732.4(RAD50):c.2789_2792del (p.Ile930fs) rs587781930
NM_005732.4(RAD50):c.2801dup (p.Asn934fs) rs748536322
NM_005732.4(RAD50):c.2829+2T>C
NM_005732.4(RAD50):c.2829+5G>C rs1446519890
NM_005732.4(RAD50):c.2830-1G>A
NM_005732.4(RAD50):c.2830-2A>C rs1554099356
NM_005732.4(RAD50):c.2884G>T (p.Glu962Ter) rs1561647410
NM_005732.4(RAD50):c.2922+1G>A rs1581004749
NM_005732.4(RAD50):c.2944A>T (p.Lys982Ter) rs1581004859
NM_005732.4(RAD50):c.2980A>T (p.Lys994Ter) rs876660364
NM_005732.4(RAD50):c.3029_3032del (p.Thr1010fs) rs1060501941
NM_005732.4(RAD50):c.3036+1G>A rs1561647611
NM_005732.4(RAD50):c.3037-2A>G rs1554099774
NM_005732.4(RAD50):c.304_307del (p.Cys102fs)
NM_005732.4(RAD50):c.3058del (p.Asp1020fs)
NM_005732.4(RAD50):c.3068_3072del (p.Thr1023fs)
NM_005732.4(RAD50):c.3160_3164+8del rs1751171297
NM_005732.4(RAD50):c.3164+1G>A rs786203805
NM_005732.4(RAD50):c.3164+1G>C rs786203805
NM_005732.4(RAD50):c.3164+2T>C
NM_005732.4(RAD50):c.3165-2A>G
NM_005732.4(RAD50):c.3209del (p.Asn1070fs) rs786202187
NM_005732.4(RAD50):c.3353del (p.Asn1118fs) rs1554099888
NM_005732.4(RAD50):c.3372T>A (p.Tyr1124Ter) rs775069541
NM_005732.4(RAD50):c.3389+1G>A rs762648843
NM_005732.4(RAD50):c.3389+1G>C rs762648843
NM_005732.4(RAD50):c.366-2A>G rs1554097755
NM_005732.4(RAD50):c.452_453dup (p.Asn152Ter) rs1561635887
NM_005732.4(RAD50):c.475C>T (p.Gln159Ter)
NM_005732.4(RAD50):c.541_542delinsA (p.Ser181fs) rs876659255
NM_005732.4(RAD50):c.541dup (p.Ser181fs) rs786201531
NM_005732.4(RAD50):c.551+1G>C
NM_005732.4(RAD50):c.551+2T>A rs1580987375
NM_005732.4(RAD50):c.551+2T>C rs1580987375
NM_005732.4(RAD50):c.552-1G>T
NM_005732.4(RAD50):c.552-2A>C rs1060501970
NM_005732.4(RAD50):c.561dup (p.Ala188fs) rs876659005
NM_005732.4(RAD50):c.731_732del (p.Ser243_Tyr244insTer) rs1580987798
NM_005732.4(RAD50):c.756+2T>G rs764122619
NM_005732.4(RAD50):c.756+2del
NM_005732.4(RAD50):c.756_756+2delinsTG rs1554097840
NM_005732.4(RAD50):c.886-1G>C rs1580992079
NM_005732.4(RAD50):c.886-4_890delinsCAAATAAA rs1554098191
NM_005732.4(RAD50):c.999_1002del (p.Asn333fs) rs1580992265

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