ClinVar Miner

List of variants reported as likely benign for Fanconi renotubular syndrome 2 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003052.5(SLC34A1):c.398C>T (p.Ala133Val) rs148976897 0.00298
NM_003052.5(SLC34A1):c.621G>A (p.Ala207=) rs137909349 0.00050
NM_003052.5(SLC34A1):c.741C>A (p.Ile247=) rs374121143 0.00013
NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=) rs148575220 0.00012
NM_003052.5(SLC34A1):c.1485C>A (p.Arg495=) rs768939354 0.00010
NM_003052.5(SLC34A1):c.510C>T (p.Ile170=) rs552176812 0.00009
NM_003052.5(SLC34A1):c.420C>T (p.Asn140=) rs200188041 0.00006
NM_003052.5(SLC34A1):c.1443C>T (p.Asn481=) rs137867155 0.00005
NM_003052.5(SLC34A1):c.1698C>T (p.Pro566=) rs377213972 0.00004
NM_003052.5(SLC34A1):c.294C>T (p.Gly98=) rs767269039 0.00003
NM_003052.5(SLC34A1):c.1038G>T (p.Pro346=) rs73336286
NM_003052.5(SLC34A1):c.1209C>T (p.Tyr403=) rs1581648732
NM_003052.5(SLC34A1):c.1227C>A (p.Gly409=) rs145542852
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del) rs876661296

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.