List of variants in gene NPHP4 reported as likely benign by Illumina Laboratory Services, Illumina

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: 27

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015102.5(NPHP4):c.1631C>G (p.Ala544Gly)	rs12093500	0.02840
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp)	rs17472401	0.01606
NM_015102.5(NPHP4):c.2876G>A (p.Arg959Gln)	rs12084067	0.01099
NM_015102.5(NPHP4):c.2293G>A (p.Val765Ile)	rs149244006	0.00420
NM_015102.5(NPHP4):c.2681A>G (p.His894Arg)	rs113097479	0.00418
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val)	rs139767853	0.00374
NM_015102.5(NPHP4):c.1503+10G>A	rs41307782	0.00367
NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly)	rs187947581	0.00330
NM_015102.5(NPHP4):c.4237G>A (p.Asp1413Asn)	rs115910810	0.00328
NM_015102.5(NPHP4):c.3036C>T (p.Pro1012=)	rs34265978	0.00283
NM_015102.5(NPHP4):c.1622C>T (p.Pro541Leu)	rs145255635	0.00265
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His)	rs183885357	0.00200
NM_015102.5(NPHP4):c.3574C>T (p.Arg1192Trp)	rs139022622	0.00172
NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn)	rs147588666	0.00147
NM_015102.5(NPHP4):c.2820G>A (p.Ala940=)	rs35575973	0.00078
NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn)	rs148424288	0.00074
NM_015102.5(NPHP4):c.3292G>A (p.Ala1098Thr)	rs41280798	0.00068
NM_015102.5(NPHP4):c.3045-5C>T	rs2297790	0.00038
NM_015102.5(NPHP4):c.1632C>T (p.Ala544=)	rs201903713	0.00025
NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly)	rs117898549	0.00020
NM_015102.5(NPHP4):c.1120-13G>T	rs192450719	0.00019
NM_015102.5(NPHP4):c.2716C>T (p.Arg906Cys)	rs199992272	0.00017
NM_015102.5(NPHP4):c.3777G>A (p.Arg1259=)	rs369566680	0.00016
NM_015102.5(NPHP4):c.1764-5C>T	rs370899989	0.00004
NM_015102.5(NPHP4):c.3645-15C>T	rs558429618	0.00001
NM_015102.5(NPHP4):c.136-4del	rs143323188
NM_015102.5(NPHP4):c.3758G>A (p.Arg1253Gln)	rs560944258

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.