List of variants in gene NEB 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: 141

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HGVS	dbSNP	gnomAD frequency
NM_001164508.2(NEB):c.11910+1G>A	rs774495973	0.00003
NM_001164508.2(NEB):c.18472-1G>C	rs1203257517	0.00003
NM_001164508.2(NEB):c.19836+1G>A	rs1446930968	0.00003
NM_001164508.2(NEB):c.1153-2A>G	rs1553609515	0.00001
NM_001164508.2(NEB):c.1258-2A>G	rs1553608621	0.00001
NM_001164508.2(NEB):c.1365+2T>C	rs770797137	0.00001
NM_001164508.2(NEB):c.1570-2del	rs2099590816	0.00001
NM_001164508.2(NEB):c.20577+2T>C	rs1185654671	0.00001
NM_001164508.2(NEB):c.20787+2T>C	rs1337287633	0.00001
NM_001164508.2(NEB):c.295-2A>G	rs1428300892	0.00001
NM_001164508.2(NEB):c.37-1G>A	rs1428597732	0.00001
NM_001164508.2(NEB):c.8020G>A (p.Glu2674Lys)	rs369224273	0.00001
NC_000002.11:g.(?_152348187)_(152425896_?)dup
NC_000002.11:g.(?_152506680)_(152507409_?)del
NC_000002.11:g.(?_152541945)_(152544191_?)del
NM_001164508.2(NEB):c.10143+2T>G
NM_001164508.2(NEB):c.10144-2A>G	rs1435980710
NM_001164508.2(NEB):c.10675C>G (p.Arg3559Gly)	rs751938843
NM_001164508.2(NEB):c.11077-1G>A	rs1458096844
NM_001164508.2(NEB):c.1153-2A>T	rs1553609515
NM_001164508.2(NEB):c.11805+1G>A
NM_001164508.2(NEB):c.11806-1G>A	rs886041851
NM_001164508.2(NEB):c.12019-2A>G
NM_001164508.2(NEB):c.12330+1G>A	rs1350840483
NM_001164508.2(NEB):c.12330+5G>A	rs763163879
NM_001164508.2(NEB):c.12331-1G>A	rs2097775442
NM_001164508.2(NEB):c.1257+2T>G	rs2149365500
NM_001164508.2(NEB):c.12640-1G>A	rs2097713999
NM_001164508.2(NEB):c.12747+2T>C
NM_001164508.2(NEB):c.12748-1G>A
NM_001164508.2(NEB):c.12748-1_12761del	rs2153940927
NM_001164508.2(NEB):c.13060-2A>G	rs2097571378
NM_001164508.2(NEB):c.13368+1G>A
NM_001164508.2(NEB):c.13369-2A>C
NM_001164508.2(NEB):c.13369-2A>G
NM_001164508.2(NEB):c.13369-2_13374del
NM_001164508.2(NEB):c.13476+1G>A	rs1578868550
NM_001164508.2(NEB):c.13477-2A>G	rs2153903681
NM_001164508.2(NEB):c.13477-2A>T
NM_001164508.2(NEB):c.1365+1G>T
NM_001164508.2(NEB):c.1569+1G>A	rs1553605553
NM_001164508.2(NEB):c.1569+1G>C
NM_001164508.2(NEB):c.1570-1G>C	rs1390328608
NM_001164508.2(NEB):c.1570-2A>G	rs1553603958
NM_001164508.2(NEB):c.1675-2A>G
NM_001164508.2(NEB):c.17431-2A>T
NM_001164508.2(NEB):c.17535+1G>T	rs2153749469
NM_001164508.2(NEB):c.17736+1G>A
NM_001164508.2(NEB):c.1782+1del	rs1390897355
NM_001164508.2(NEB):c.17953_18472-56del
NM_001164508.2(NEB):c.18146_18156+7del
NM_001164508.2(NEB):c.18157-2A>G	rs925947627
NM_001164508.2(NEB):c.18261+1G>A
NM_001164508.2(NEB):c.18261+1G>T	rs112544116
NM_001164508.2(NEB):c.18366+2T>C	rs2153729614
NM_001164508.2(NEB):c.18367-1_18367delinsAA	rs1553770178
NM_001164508.2(NEB):c.18367-1_18370del	rs1553770146
NM_001164508.2(NEB):c.18471+1G>C	rs1553769576
NM_001164508.2(NEB):c.18580-8_18608del
NM_001164508.2(NEB):c.18694-1G>A	rs2153712182
NM_001164508.2(NEB):c.1897-1G>A	rs1553593177
NM_001164508.2(NEB):c.18996+2T>C	rs1577636079
NM_001164508.2(NEB):c.19101+1G>A
NM_001164508.2(NEB):c.19836+1del
NM_001164508.2(NEB):c.19945-2A>C	rs113473971
NM_001164508.2(NEB):c.20049+2T>A
NM_001164508.2(NEB):c.20157+1G>A
NM_001164508.2(NEB):c.20262+2T>C
NM_001164508.2(NEB):c.20262+2T>G	rs2153617573
NM_001164508.2(NEB):c.20578-2A>G
NM_001164508.2(NEB):c.20682+1G>A	rs1576819152
NM_001164508.2(NEB):c.21102+2_21102+3del
NM_001164508.2(NEB):c.21103-1G>C
NM_001164508.2(NEB):c.2211+2T>A	rs2149150540
NM_001164508.2(NEB):c.2310+2_2310+3delinsAC
NM_001164508.2(NEB):c.2472_2638-455del
NM_001164508.2(NEB):c.2523+2T>A	rs2099513404
NM_001164508.2(NEB):c.2524-2A>G	rs2148951277
NM_001164508.2(NEB):c.2835+1G>A
NM_001164508.2(NEB):c.2836-2A>G	rs1208297049
NM_001164508.2(NEB):c.3042+1G>A	rs2099408391
NM_001164508.2(NEB):c.3042+1G>T
NM_001164508.2(NEB):c.3043-1G>A	rs113326313
NM_001164508.2(NEB):c.3127_3129dup (p.Asn1043dup)	rs1288870299
NM_001164508.2(NEB):c.3252_3255+3del	rs1559168230
NM_001164508.2(NEB):c.36+1G>C	rs1553711195
NM_001164508.2(NEB):c.37-1G>C	rs1428597732
NM_001164508.2(NEB):c.3988-1G>A	rs1553517128
NM_001164508.2(NEB):c.3988-2A>G	rs924831918
NM_001164508.2(NEB):c.402+1G>T
NM_001164508.2(NEB):c.403-1G>C
NM_001164508.2(NEB):c.403-2A>G
NM_001164508.2(NEB):c.403-6_405del	rs1553689774
NM_001164508.2(NEB):c.4300-1G>A
NM_001164508.2(NEB):c.4300-1G>C
NM_001164508.2(NEB):c.4506+1G>A	rs112517981
NM_001164508.2(NEB):c.4506+2T>C
NM_001164508.2(NEB):c.4507-1G>A	rs2154185810
NM_001164508.2(NEB):c.4507-2A>C	rs1575668113
NM_001164508.2(NEB):c.4507-2A>G	rs1575668113
NM_001164508.2(NEB):c.4611+1G>A	rs1233792020
NM_001164508.2(NEB):c.4719+2T>A
NM_001164508.2(NEB):c.498_507+18del
NM_001164508.2(NEB):c.5031+2T>C	rs2154178700
NM_001164508.2(NEB):c.507+2T>C
NM_001164508.2(NEB):c.508-1G>A
NM_001164508.2(NEB):c.5239-1G>A
NM_001164508.2(NEB):c.5451+1G>T
NM_001164508.2(NEB):c.5451+2_5451+11del	rs1553487838
NM_001164508.2(NEB):c.5452-1G>A	rs2154172894
NM_001164508.2(NEB):c.5763+1G>A	rs2154172204
NM_001164508.2(NEB):c.5764-2A>G
NM_001164508.2(NEB):c.6075+2T>G	rs2154157623
NM_001164508.2(NEB):c.612+1G>A	rs1202331107
NM_001164508.2(NEB):c.613-1G>A	rs767693366
NM_001164508.2(NEB):c.613-1G>C	rs767693366
NM_001164508.2(NEB):c.613-2A>G	rs752893483
NM_001164508.2(NEB):c.6183+1G>A	rs557870969
NM_001164508.2(NEB):c.6183+1G>T
NM_001164508.2(NEB):c.6184-1G>A	rs2154149413
NM_001164508.2(NEB):c.6915+1G>A
NM_001164508.2(NEB):c.717+1G>A	rs1577833924
NM_001164508.2(NEB):c.718-1G>A
NM_001164508.2(NEB):c.7432-1G>A	rs2154122716
NM_001164508.2(NEB):c.7536+1G>A
NM_001164508.2(NEB):c.822+1G>A	rs2099762097
NM_001164508.2(NEB):c.8265+1G>A	rs1131691547
NM_001164508.2(NEB):c.8265+1G>T
NM_001164508.2(NEB):c.8373+1G>A	rs2154112865
NM_001164508.2(NEB):c.8374-1G>A	rs1180407562
NM_001164508.2(NEB):c.8686-2A>G
NM_001164508.2(NEB):c.8889+1G>A	rs1553963960
NM_001164508.2(NEB):c.8890-1G>A
NM_001164508.2(NEB):c.8994+1G>A	rs2098817648
NM_001164508.2(NEB):c.8995-1G>C
NM_001164508.2(NEB):c.9102+1G>A	rs143644938
NM_001164508.2(NEB):c.9415-1G>A
NM_001164508.2(NEB):c.9723+1G>A	rs113803601
NM_001164508.2(NEB):c.9724-1G>A	rs1553934586
NM_001164508.2(NEB):c.9831+1G>A	rs1553933986
NM_001271208.1(NEB):c.7291G>A	rs767302772

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