List of variants in gene NEB reported as benign for Arthrogryposis multiplex congenita 6

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: 46

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001164508.2(NEB):c.9124T>C (p.Cys3042Arg)	rs6710212	0.97529
NM_001164508.2(NEB):c.294+52T>G	rs4664499	0.85425
NM_001164508.2(NEB):c.3901T>C (p.Tyr1301His)	rs6711382	0.81103
NM_001164508.2(NEB):c.402+101A>G	rs4300824	0.78142
NM_001164508.2(NEB):c.3081A>T (p.Lys1027Asn)	rs6735208	0.69255
NM_001164508.2(NEB):c.771T>C (p.Ala257=)	rs4611637	0.68008
NM_001164508.2(NEB):c.18305G>C (p.Arg6102Thr)	rs2288210	0.66332
NM_001164508.2(NEB):c.4471G>A (p.Val1491Met)	rs7426114	0.66326
NM_001164508.2(NEB):c.20158-42G>A	rs2288201	0.63566
NM_001164508.2(NEB):c.1674+30T>G	rs6433569	0.62430
NM_001164508.2(NEB):c.9363T>C (p.Pro3121=)	rs6709886	0.62301
NM_001164508.2(NEB):c.20368-57G>A	rs4664486	0.59006
NM_001164508.2(NEB):c.20998-44A>C	rs3732310	0.56531
NM_001164508.2(NEB):c.19731+103G>T	rs4575719	0.55813
NM_001164508.2(NEB):c.10452+71T>C	rs10186482	0.50955
NM_001164508.2(NEB):c.7839G>C (p.Lys2613Asn)	rs13013209	0.34676
NM_001164508.2(NEB):c.8734T>C (p.Ser2912Pro)	rs6713162	0.31314
NM_001164508.2(NEB):c.5370G>A (p.Glu1790=)	rs10170273	0.30371
NM_001164508.2(NEB):c.6807+6T>G	rs10930723	0.29833
NM_001164508.2(NEB):c.1675-67C>T	rs10193188	0.29744
NM_001164508.2(NEB):c.5763+35T>C	rs12620077	0.29408
NM_001164508.2(NEB):c.8160+84G>A	rs4664494	0.29054
NM_001164508.2(NEB):c.19314+42C>T	rs2288206	0.27894
NM_001164508.2(NEB):c.18366+78T>C	rs7602715	0.27138
NM_001164508.2(NEB):c.5763+281G>A	rs12616767	0.26661
NM_001164508.2(NEB):c.16705-18C>T	rs61254943	0.26527
NM_001164508.2(NEB):c.16909-168C>T	rs3771901	0.26318
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys)	rs10172023	0.26237
NM_001164508.2(NEB):c.17535+90A>G	rs3732312	0.24731
NM_001164508.2(NEB):c.18294T>C (p.Tyr6098=)	rs2288211	0.24726
NM_001164508.2(NEB):c.18156+222T>A	rs12052998	0.24703
NM_001164508.2(NEB):c.4611+70T>C	rs58903550	0.20373
NM_001164508.2(NEB):c.4435G>A (p.Val1479Ile)	rs34577613	0.20341
NM_001164508.2(NEB):c.11289+99G>A	rs62174707	0.19979
NM_001164508.2(NEB):c.5031+48A>G	rs4664496	0.18844
NM_001164508.2(NEB):c.8161-118A>T	rs35172004	0.18143
NM_001164508.2(NEB):c.3879+20G>T	rs12618063	0.17493
NM_001164508.2(NEB):c.16911A>G (p.Pro5637=)	rs33988153	0.17490
NM_001164508.2(NEB):c.7957-152C>T	rs28375835	0.12498
NM_001164508.2(NEB):c.12018+29G>A	rs11902616	0.11589
NM_001164508.2(NEB):c.2944-9G>A	rs13427102	0.10205
NM_001164508.2(NEB):c.6184-14T>A	rs10173335	0.09664
NM_001164508.2(NEB):c.5971C>T (p.His1991Tyr)	rs75807392	0.04908
NM_001164508.2(NEB):c.20766C>T (p.Asp6922=)	rs34555492	0.01234
NM_001164508.2(NEB):c.2475C>T (p.Asp825=)	rs180881237	0.00007
NM_001164508.2(NEB):c.10872+27A>C	rs10186656

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.