List of variants in gene combination RAD50, TH2-LCR, TH2LCRR reported as likely pathogenic by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_005732.4(RAD50):c.3715C>T (p.Arg1239Ter)	rs876658770	0.00002
NC_000005.9:g.(?_131972797)_(131976507_?)dup
NC_000005.9:g.(?_131972801)_(131976503_?)dup
NM_005732.4(RAD50):c.3390-2A>G	rs2149862702
NM_005732.4(RAD50):c.3475+2T>C	rs761168506
NM_005732.4(RAD50):c.3476-1G>C	rs151131414
NM_005732.4(RAD50):c.3612_3618+5del	rs995265408
NM_005732.4(RAD50):c.3618+1G>A	rs587781925
NM_005732.4(RAD50):c.3619-1G>A	rs2149865518
NM_005732.4(RAD50):c.3639del (p.Arg1214fs)	rs1554101172
NM_005732.4(RAD50):c.3655_3748dup (p.Val1250delinsGlyAsnValLeuProGlnLeuTrpHisHisCysLeuGlyTer)
NM_005732.4(RAD50):c.3744del (p.Leu1249fs)	rs2149865865
NM_005732.4(RAD50):c.3753-1G>A	rs1554101314
NM_005732.4(RAD50):c.3753-5T>A	rs1581024884
NM_005732.4(RAD50):c.3753-8T>G
NM_005732.4(RAD50):c.3763del (p.Ser1255fs)	rs760621534
NM_005732.4(RAD50):c.3770C>A (p.Ser1257Ter)	rs1060501933

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