ClinVar Miner

List of variants in gene RAD50 reported as likely pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 22
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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.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.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>T rs587781742
NM_005732.4(RAD50):c.1970-1G>A rs1554098662
NM_005732.4(RAD50):c.213+1G>T rs765484171
NM_005732.4(RAD50):c.3037-2A>G rs1554099774
NM_005732.4(RAD50):c.3389+1G>A rs762648843
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.756+2T>C rs764122619
NM_005732.4(RAD50):c.757-1G>C rs1554098156
Single allele

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