ClinVar Miner

List of variants reported as likely benign for Infantile nephronophthisis by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014425.5(INVS):c.616-19T>C rs78038572 0.01891
NM_014425.5(INVS):c.740A>G (p.Asn247Ser) rs41312220 0.00526
NM_014425.5(INVS):c.1785-20T>G rs200028895 0.00018
NM_014425.5(INVS):c.2685C>T (p.Pro895=) rs371932940 0.00011
NM_014425.5(INVS):c.1465-15T>G rs772436028 0.00004
NM_014425.5(INVS):c.2307G>A (p.Pro769=) rs140706545 0.00004
NM_014425.5(INVS):c.1671C>T (p.Ile557=) rs770524429 0.00001
NM_014425.5(INVS):c.2394C>G (p.Leu798=) rs751531097 0.00001
NM_014425.5(INVS):c.867A>C (p.Gly289=) rs1227795087 0.00001
NM_014425.5(INVS):c.1638C>T (p.His546=) rs758665047
NM_014425.5(INVS):c.2582G>C (p.Arg861Thr) rs760537423
NM_014425.5(INVS):c.448-19G>T rs760646531
NM_014425.5(INVS):c.849C>T (p.Ile283=) rs886038605

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.