List of variants in gene combination NEB, RIF1 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: 79

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HGVS	dbSNP	gnomAD frequency
NM_001164508.2(NEB):c.22590+2T>C	rs200449517	0.00009
NM_001164508.2(NEB):c.24114+1G>A	rs755239192	0.00009
NM_001164508.2(NEB):c.23742+2T>C	rs545937015	0.00006
NM_001164508.2(NEB):c.22800+1G>A	rs1302373559	0.00003
NM_001164508.2(NEB):c.21313-2A>T	rs1212081578	0.00001
NM_001164508.2(NEB):c.21736-13_21743del	rs767772838	0.00001
NM_001164508.2(NEB):c.22375-1G>A	rs949331605	0.00001
NM_001164508.2(NEB):c.22696-1G>A	rs745511810	0.00001
NM_001164508.2(NEB):c.22905+2T>C	rs1553623367	0.00001
NM_001164508.2(NEB):c.23016+1G>A	rs111833078	0.00001
NM_001164508.2(NEB):c.23127+2T>C	rs112610938	0.00001
NM_001164508.2(NEB):c.23451+1G>T	rs1011425121	0.00001
NM_001164508.2(NEB):c.24022-1G>C	rs1553561697	0.00001
NM_001164508.2(NEB):c.24300+1G>A	rs1366853918	0.00001
NM_001164508.2(NEB):c.24393+1G>A	rs775631800	0.00001
NM_001164508.2(NEB):c.21313-1G>C	rs2153515796
NM_001164508.2(NEB):c.21418-1G>A	rs2153501801
NM_001164508.2(NEB):c.21523-1G>T
NM_001164508.2(NEB):c.21735+1G>C	rs2153475495
NM_001164508.2(NEB):c.21736-1G>T
NM_001164508.2(NEB):c.21736-2A>G	rs1389892619
NM_001164508.2(NEB):c.21945+1G>A
NM_001164508.2(NEB):c.21945+1G>C	rs2153458564
NM_001164508.2(NEB):c.22161+1G>A	rs112933443
NM_001164508.2(NEB):c.22272+1G>A
NM_001164508.2(NEB):c.22272+2_22272+3del	rs2153447342
NM_001164508.2(NEB):c.22375-1G>C
NM_001164508.2(NEB):c.22375-2A>G	rs2153437998
NM_001164508.2(NEB):c.22480-1G>C
NM_001164508.2(NEB):c.22696-2A>C
NM_001164508.2(NEB):c.22800+2T>G	rs1553627466
NM_001164508.2(NEB):c.23017-3_23017del
NM_001164508.2(NEB):c.23127+1G>A
NM_001164508.2(NEB):c.23127+2T>A
NM_001164508.2(NEB):c.23128-1G>T
NM_001164508.2(NEB):c.23242-2A>G
NM_001164508.2(NEB):c.23346+1G>A
NM_001164508.2(NEB):c.23346+2T>G
NM_001164508.2(NEB):c.23347-2A>G
NM_001164508.2(NEB):c.23451+1G>A
NM_001164508.2(NEB):c.23451+1G>C	rs1011425121
NM_001164508.2(NEB):c.23452-1G>C
NM_001164508.2(NEB):c.23556+1G>T	rs2153195911
NM_001164508.2(NEB):c.23556+2T>A
NM_001164508.2(NEB):c.23650-1G>A	rs2153172016
NM_001164508.2(NEB):c.23650-2A>T
NM_001164508.2(NEB):c.23743-1G>C	rs797045098
NM_001164508.2(NEB):c.23835+2T>C
NM_001164508.2(NEB):c.23836-1G>A
NM_001164508.2(NEB):c.23836-2A>G	rs2153104173
NM_001164508.2(NEB):c.23929-1G>C	rs2153074006
NM_001164508.2(NEB):c.23929-2A>C	rs1553569122
NM_001164508.2(NEB):c.24022-1G>A	rs1553561697
NM_001164508.2(NEB):c.24114+1G>C
NM_001164508.2(NEB):c.24115-1G>A
NM_001164508.2(NEB):c.24115-2A>G	rs2152992966
NM_001164508.2(NEB):c.24297_24300+1del
NM_001164508.2(NEB):c.24301-1G>T
NM_001164508.2(NEB):c.24394-1G>A	rs1421095081
NM_001164508.2(NEB):c.24394-1G>C
NM_001164508.2(NEB):c.24487-1G>A
NM_001164508.2(NEB):c.24487-2A>G
NM_001164508.2(NEB):c.24487-6_24491del
NM_001164508.2(NEB):c.24579+1G>T	rs2058584112
NM_001164508.2(NEB):c.24579+2T>C	rs1039759571
NM_001164508.2(NEB):c.24580-1G>C	rs1574772311
NM_001164508.2(NEB):c.24672+1G>C
NM_001164508.2(NEB):c.24673-1G>A	rs1574741105
NM_001164508.2(NEB):c.24673-1G>C
NM_001164508.2(NEB):c.24765+1G>A	rs2058028669
NM_001164508.2(NEB):c.24765+2T>A	rs2152850167
NM_001164508.2(NEB):c.25057+1G>A	rs1191429915
NM_001164508.2(NEB):c.25057+1G>C	rs1191429915
NM_001164508.2(NEB):c.25057+1G>T	rs1191429915
NM_001164508.2(NEB):c.25058-2A>C	rs866309952
NM_001164508.2(NEB):c.25235_25297+90del
NM_001164508.2(NEB):c.25297+1G>A	rs113525641
NM_001164508.2(NEB):c.25298-2A>C
NM_001164508.2(NEB):c.25298-2A>G

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