List of variants reported as benign for constitutional neutropenia by Genome-Nilou Lab

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

Total variants: 24

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003664.5(AP3B1):c.1754T>A (p.Val585Glu)	rs6453373	0.91917
NM_005263.5(GFI1):c.465C>T (p.Cys155=)	rs11164605	0.84576
NM_152564.5(VPS13B):c.1206+33T>G	rs7460625	0.73774
NM_032492.4(JAGN1):c.96T>C (p.Thr32=)	rs279553	0.69356
NM_024598.4(USB1):c.99-36G>A	rs3743560	0.60216
NM_000760.4(CSF3R):c.1260T>C (p.Thr420=)	rs3917981	0.59625
NM_000760.4(CSF3R):c.1254T>C (p.Arg418=)	rs3917980	0.28603
NM_183235.3(RAB27A):c.*14C>T	rs1050931	0.27464
NM_001164277.2(SLC37A4):c.1224G>A (p.Thr408=)	rs8192696	0.24916
NM_152564.5(VPS13B):c.10061+24G>A	rs34513504	0.23936
NM_006118.4(HAX1):c.-58T>G	rs11265425	0.21409
NM_152564.5(VPS13B):c.3666+55T>C	rs3134156	0.17268
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=)	rs36074608	0.15932
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg)	rs6468694	0.11916
NM_001164277.2(SLC37A4):c.626+19C>T	rs741811	0.11102
NM_152564.5(VPS13B):c.3667-7C>T	rs35543295	0.03607
NM_001164277.2(SLC37A4):c.626+14C>T	rs56394886	0.01293
NM_001164277.2(SLC37A4):c.149-14A>G	rs79849261	0.01232
NM_001164277.2(SLC37A4):c.1275C>T (p.Ser425=)	rs35010541	0.01045
NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=)	rs61730035	0.00758
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile)	rs61753722	0.00690
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=)	rs78996818	0.00559
NM_003664.5(AP3B1):c.280-6dup	rs5868908
NM_152564.5(VPS13B):c.2824+97G>C	rs7840337

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.