ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_005732.4(RAD50):c.3G>A (p.Met1Ile) rs377260382 0.00004
NM_005732.4(RAD50):c.1052-2A>C rs876660957 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.213+1G>T rs765484171 0.00001
NM_005732.4(RAD50):c.3164+1G>T rs786203805 0.00001
NM_005732.4(RAD50):c.552-1G>A rs1236278956 0.00001
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.(?_131973767)_(131973921_?)dup
NM_005732.3(RAD50):c.3476-?_3618+?dup
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.1245+1G>A rs1561639636
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.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.1452+1G>A rs1750667558
NM_005732.4(RAD50):c.1452+2T>C rs2149841600
NM_005732.4(RAD50):c.1636-1G>A rs1750705894
NM_005732.4(RAD50):c.1793+1del
NM_005732.4(RAD50):c.1793+4A>G
NM_005732.4(RAD50):c.1969+1G>C rs587782078
NM_005732.4(RAD50):c.1970-1G>A rs1554098662
NM_005732.4(RAD50):c.1A>G (p.Met1Val) rs876658212
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.2207+1G>A
NM_005732.4(RAD50):c.2397+1G>A rs1750926104
NM_005732.4(RAD50):c.2524+1G>A rs1581001575
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.2718+1G>T rs556830991
NM_005732.4(RAD50):c.2718G>T (p.Lys906Asn)
NM_005732.4(RAD50):c.2719-1G>T
NM_005732.4(RAD50):c.2829+2T>C
NM_005732.4(RAD50):c.2830-1G>A
NM_005732.4(RAD50):c.2922+1G>A rs1581004749
NM_005732.4(RAD50):c.3036+1G>A rs1561647611
NM_005732.4(RAD50):c.3037-2A>G rs1554099774
NM_005732.4(RAD50):c.3160_3164+8del rs1751171297
NM_005732.4(RAD50):c.3164+1G>A rs786203805
NM_005732.4(RAD50):c.3164+2T>C
NM_005732.4(RAD50):c.3389+1G>A rs762648843
NM_005732.4(RAD50):c.551+2T>C rs1580987375
NM_005732.4(RAD50):c.552-2A>C rs1060501970
NM_005732.4(RAD50):c.756+2del
NM_005732.4(RAD50):c.886-1G>C rs1580992079

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