ClinVar Miner

List of variants reported as likely benign for distal renal tubular acidosis by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000342.4(SLC4A1):c.2712C>T (p.Tyr904=) rs45519733 0.01857
NM_020632.3(ATP6V0A4):c.417+14G>C rs141824671 0.01075
NM_020632.3(ATP6V0A4):c.735T>C (p.Thr245=) rs77328827 0.00942
NM_000342.4(SLC4A1):c.12G>A (p.Leu4=) rs115901854 0.00447
NM_000342.4(SLC4A1):c.216G>T (p.Glu72Asp) rs13306788 0.00342
NM_020632.3(ATP6V0A4):c.2481A>G (p.Pro827=) rs6956646 0.00297
NM_020632.3(ATP6V0A4):c.1573-3C>T rs182512951 0.00153
NM_020632.3(ATP6V0A4):c.1806C>T (p.Asp602=) rs141568521 0.00070
NM_000342.4(SLC4A1):c.2482-7C>T rs371728036 0.00063
NM_020632.3(ATP6V0A4):c.2011-8G>A rs183571925 0.00061
NM_000342.4(SLC4A1):c.2340G>A (p.Leu780=) rs139912334 0.00056
NM_001692.4(ATP6V1B1):c.1236C>G (p.Val412=) rs147229014 0.00050
NM_000342.4(SLC4A1):c.297C>T (p.Leu99=) rs146541331 0.00046
NM_000342.4(SLC4A1):c.1272C>T (p.Gly424=) rs148115666 0.00035
NM_000342.4(SLC4A1):c.486-18C>T rs201023917 0.00031
NM_020632.3(ATP6V0A4):c.1030-18T>C rs769523748 0.00027
NM_020632.3(ATP6V0A4):c.118-3T>A rs186717040 0.00026
NM_000342.4(SLC4A1):c.798T>C (p.Phe266=) rs193011645 0.00023
NM_001692.4(ATP6V1B1):c.591C>T (p.Ala197=) rs199914263 0.00019
NM_000342.4(SLC4A1):c.1258G>A (p.Ala420Thr) rs142905862 0.00015
NM_001692.4(ATP6V1B1):c.348G>A (p.Pro116=) rs145734697 0.00009
NM_000342.4(SLC4A1):c.1800+12C>T rs556266412 0.00008
NM_001692.4(ATP6V1B1):c.1533T>C (p.Thr511=) rs782329243 0.00008
NM_001692.4(ATP6V1B1):c.231C>T (p.Ser77=) rs151191933 0.00007
NM_000342.4(SLC4A1):c.102G>A (p.Pro34=) rs55898602 0.00006
NM_001692.4(ATP6V1B1):c.585+7C>G rs369075264 0.00006
NM_020632.3(ATP6V0A4):c.1909-19C>T rs373949515 0.00006
NM_000342.4(SLC4A1):c.1800+17C>T rs370756072 0.00004
NM_000342.4(SLC4A1):c.1311G>A (p.Val437=) rs370089486 0.00003
NM_000342.4(SLC4A1):c.876+8A>G rs750432041 0.00003
NM_001692.4(ATP6V1B1):c.118+10C>T rs368755541 0.00003
NM_001692.4(ATP6V1B1):c.537C>T (p.Arg179=) rs545034098 0.00003
NM_001692.4(ATP6V1B1):c.435G>A (p.Leu145=) rs781880491 0.00002
NM_001692.4(ATP6V1B1):c.45T>C (p.Ser15=) rs1045132687 0.00002
NM_020632.3(ATP6V0A4):c.417+8C>T rs767661194 0.00002
NM_001692.4(ATP6V1B1):c.1221G>A (p.Lys407=) rs782782168 0.00001
NM_001692.4(ATP6V1B1):c.393G>A (p.Lys131=) rs1332086842 0.00001
NM_001692.4(ATP6V1B1):c.462G>A (p.Pro154=) rs1471681639 0.00001
NM_020632.3(ATP6V0A4):c.118-10G>A rs191616896 0.00001
NM_000342.4(SLC4A1):c.659T>C (p.Ile220Thr)
NM_000342.4(SLC4A1):c.768G>A (p.Val256=)
NM_000342.4(SLC4A1):c.82G>A (p.Glu28Lys)
NM_001692.4(ATP6V1B1):c.195C>A (p.Ile65=) rs375489300
NM_001692.4(ATP6V1B1):c.367+10A>T rs1572919668
NM_001692.4(ATP6V1B1):c.367+20A>T rs1572919684
NM_001692.4(ATP6V1B1):c.549C>A (p.Ile183=) rs2104827670
NM_020632.3(ATP6V0A4):c.640-29dup rs72044473

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.