ClinVar Miner

List of variants in gene combination KIRREL2, NPHS1 studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004646.4(NPHS1):c.59-5C>G rs114595892 0.01945
NM_004646.4(NPHS1):c.43G>C (p.Gly15Arg) rs73928330 0.00456
NM_004646.4(NPHS1):c.59-19C>A rs115350784 0.00214
NM_004646.4(NPHS1):c.128T>C (p.Val43Ala) rs140626538 0.00205
NM_004646.4(NPHS1):c.65C>T (p.Ala22Val) rs116617171 0.00023
NM_004646.4(NPHS1):c.216C>A (p.Gly72=) rs764300734 0.00003
NM_004646.4(NPHS1):c.-3G>A rs1039683723 0.00002
NM_004646.4(NPHS1):c.218C>T (p.Pro73Leu) rs752777463 0.00001

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.