ClinVar Miner

List of variants reported as likely pathogenic for branchio-oto-renal syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004817.4(TJP2):c.2209G>A (p.Gly737Ser) rs139314808 0.00002
NM_000503.6(EYA1):c.229C>T (p.Arg77Ter) rs200164773 0.00001
NC_000006.12:g.(?_10398710)_(10415642_?)del
NM_000503.6(EYA1):c.1044T>G (p.Tyr348Ter) rs1554615511
NM_000503.6(EYA1):c.1199+2T>A rs2128854556
NM_000503.6(EYA1):c.1309C>T (p.Arg437Cys)
NM_000503.6(EYA1):c.1361-1G>A rs397517917
NM_000503.6(EYA1):c.1361-2A>G rs2128851194
NM_000503.6(EYA1):c.1448T>C (p.Leu483Pro)
NM_000503.6(EYA1):c.1460C>A (p.Ser487Ter) rs139717960
NM_000503.6(EYA1):c.1597+1G>A rs1563630117
NM_000503.6(EYA1):c.1597+1G>T
NM_000503.6(EYA1):c.1615G>T (p.Glu539Ter) rs1060499603
NM_000503.6(EYA1):c.1739T>G (p.Leu580Arg) rs1585717154
NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro) rs397517920
NM_000503.6(EYA1):c.419-2A>G
NM_000503.6(EYA1):c.520C>T (p.Gln174Ter)
NM_000503.6(EYA1):c.557-1G>A
NM_000503.6(EYA1):c.749_750insGTGT (p.Ser251fs) rs1586244371
NM_000503.6(EYA1):c.775C>T (p.Gln259Ter) rs2128999627
NM_000503.6(EYA1):c.826+1G>A
NM_000503.6(EYA1):c.966+1G>C rs2128951565
NM_000503.6(EYA1):c.979T>C (p.Trp327Arg) rs2128948223
NM_001372066.1(TFAP2A):c.1039T>C (p.Cys347Arg) rs1761890567
NM_001372066.1(TFAP2A):c.1320A>G (p.Ter440Trp) rs1554110673
NM_001372066.1(TFAP2A):c.15G>A (p.Trp5Ter) rs2113228864
NM_001372066.1(TFAP2A):c.407_413dup (p.Pro139fs) rs1554112492
NM_001372066.1(TFAP2A):c.486+1G>T
NM_001372066.1(TFAP2A):c.687C>G (p.Tyr229Ter) rs2114014460
NM_001372066.1(TFAP2A):c.703G>A (p.Glu235Lys) rs1554111751
NM_001372066.1(TFAP2A):c.712C>T (p.Arg238Trp) rs1554111749
NM_001372066.1(TFAP2A):c.719T>C (p.Leu240Pro) rs1554111734
NM_001372066.1(TFAP2A):c.730G>A (p.Glu244Lys) rs151344526
NM_001372066.1(TFAP2A):c.739A>G (p.Asn247Asp) rs2114014223
NM_001372066.1(TFAP2A):c.755G>A (p.Gly252Asp) rs1554111717
NM_001372066.1(TFAP2A):c.758G>A (p.Gly253Glu) rs151344527
NM_001372066.1(TFAP2A):c.766C>T (p.Arg256Trp) rs151344528
NM_001372066.1(TFAP2A):c.767G>A (p.Arg256Gln) rs151344530
NM_001372066.1(TFAP2A):c.769A>G (p.Arg257Gly) rs121909574
NM_001372066.1(TFAP2A):c.773C>T (p.Ala258Val) rs151344531
NM_001372066.1(TFAP2A):c.889+2dup rs1762047599
NM_001372066.1(TFAP2A):c.895G>C (p.Ala299Pro) rs1554110994
NM_001372066.1(TFAP2A):c.94C>T (p.Gln32Ter) rs1757903817
NM_005982.4(SIX1):c.500A>G (p.Gln167Arg)

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.