List of variants in gene combination RAD51D, RAD51L3-RFFL reported as pathogenic by Color Diagnostics, LLC DBA Color Health

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: 26

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HGVS	dbSNP	gnomAD frequency
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter)	rs587780104	0.00004
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter)	rs387906843	0.00003
NM_002878.4(RAD51D):c.363del (p.Ala122fs)	rs730881935	0.00002
NM_002878.4(RAD51D):c.451C>T (p.Gln151Ter)	rs587781756	0.00002
NM_002878.4(RAD51D):c.803G>A (p.Trp268Ter)	rs750219200	0.00001
NM_002878.4(RAD51D):c.141C>G (p.Tyr47Ter)	rs771077929
NM_002878.4(RAD51D):c.23_27delinsA (p.Leu8fs)	rs2091798919
NM_002878.4(RAD51D):c.254del (p.Gly85fs)	rs1567735277
NM_002878.4(RAD51D):c.270_271dup (p.Lys91fs)	rs753862052
NM_002878.4(RAD51D):c.326dup (p.Gly110fs)	rs730882119
NM_002878.4(RAD51D):c.330dup (p.Ser111Ter)	rs786202434
NM_002878.4(RAD51D):c.343C>T (p.Gln115Ter)	rs1555568473
NM_002878.4(RAD51D):c.351T>A (p.Cys117Ter)	rs1555568382
NM_002878.4(RAD51D):c.357_360del (p.Cys119fs)	rs876658297
NM_002878.4(RAD51D):c.388C>T (p.Gln130Ter)
NM_002878.4(RAD51D):c.478C>T (p.Gln160Ter)	rs1057521922
NM_002878.4(RAD51D):c.508del (p.Val170fs)	rs1567727934
NM_002878.4(RAD51D):c.547C>T (p.Gln183Ter)	rs587782695
NM_002878.4(RAD51D):c.623dup (p.Thr209fs)	rs1555567610
NM_002878.4(RAD51D):c.649_655delinsTGAGGTT (p.Gly217_Gln219delinsTer)	rs587781527
NM_002878.4(RAD51D):c.664del (p.Glu222fs)	rs1555567586
NM_002878.4(RAD51D):c.671T>A (p.Leu224Ter)	rs1567726305
NM_002878.4(RAD51D):c.748del (p.His250fs)	rs587780105
NM_002878.4(RAD51D):c.757C>T (p.Arg253Ter)	rs137886232
NM_002878.4(RAD51D):c.81del (p.Val28fs)	rs1064793952
NM_002878.4(RAD51D):c.94_95del (p.Val32fs)	rs786203137

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