ClinVar Miner

List of variants in gene RAD50 reported as likely pathogenic

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Gene type:
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Total variants: 43
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HGVS dbSNP
NM_005732.3(RAD50):c.3476-?_3618+?dup
NM_005732.4(RAD50):c.1052-2A>C rs876660957
NM_005732.4(RAD50):c.1093C>T (p.Arg365Ter) rs1247689593
NM_005732.4(RAD50):c.1174_1177del (p.Gln392fs) rs1554098250
NM_005732.4(RAD50):c.1245+2C>G rs776276760
NM_005732.4(RAD50):c.129+1G>T rs1339714611
NM_005732.4(RAD50):c.129+2T>A rs748086984
NM_005732.4(RAD50):c.130-1G>A
NM_005732.4(RAD50):c.130-1G>T rs876658784
NM_005732.4(RAD50):c.130-2A>G rs1561628206
NM_005732.4(RAD50):c.1405G>T (p.Gly469Ter) rs1561640129
NM_005732.4(RAD50):c.1631_1635+1del rs1235022794
NM_005732.4(RAD50):c.1636-2A>G rs1554098466
NM_005732.4(RAD50):c.1793+1G>C
NM_005732.4(RAD50):c.1794-1G>A rs587781742
NM_005732.4(RAD50):c.1794-1G>T rs587781742
NM_005732.4(RAD50):c.183del (p.Gly63fs) rs1554096791
NM_005732.4(RAD50):c.1969+1G>A 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.213+1G>T rs765484171
NM_005732.4(RAD50):c.2718+1_2718+5del rs876659158
NM_005732.4(RAD50):c.2829+5G>C rs1446519890
NM_005732.4(RAD50):c.2830-2A>C rs1554099356
NM_005732.4(RAD50):c.3029_3032del (p.Thr1010fs) rs1060501941
NM_005732.4(RAD50):c.3037-2A>G rs1554099774
NM_005732.4(RAD50):c.3164+1G>A rs786203805
NM_005732.4(RAD50):c.3164+1G>C rs786203805
NM_005732.4(RAD50):c.3164+1G>T rs786203805
NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter) rs121912628
NM_005732.4(RAD50):c.3389+1G>A rs762648843
NM_005732.4(RAD50):c.366-2A>G rs1554097755
NM_005732.4(RAD50):c.3G>A (p.Met1Ile) rs377260382
NM_005732.4(RAD50):c.552-1G>A rs1236278956
NM_005732.4(RAD50):c.552-2A>C rs1060501970
NM_005732.4(RAD50):c.561dup (p.Ala188fs) rs876659005
NM_005732.4(RAD50):c.687del (p.Ser229fs) rs760146707
NM_005732.4(RAD50):c.756+2T>C rs764122619
NM_005732.4(RAD50):c.756_756+2delinsTG rs1554097840
NM_005732.4(RAD50):c.757-1G>C rs1554098156
NM_005732.4(RAD50):c.886-4_890delinsCAAATAAA rs1554098191
Single allele

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