ClinVar Miner

List of variants reported as uncertain significance for T-cell immunodeficiency, congenital alopecia, and nail dystrophy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001369369.1(FOXN1):c.550C>A (p.Leu184Ile) rs202144980 0.00264
NM_001369369.1(FOXN1):c.321C>T (p.Ala107=) rs138295148 0.00197
NM_001369369.1(FOXN1):c.1131G>A (p.Lys377=) rs139218809 0.00132
NM_001369369.1(FOXN1):c.546C>T (p.Asn182=) rs62640040 0.00125
NM_001369369.1(FOXN1):c.*454A>C rs192432126 0.00083
NM_001369369.1(FOXN1):c.1657A>G (p.Ser553Gly) rs137872361 0.00065
NM_001369369.1(FOXN1):c.1184C>T (p.Pro395Leu) rs199739943 0.00050
NM_001369369.1(FOXN1):c.*318A>G rs886052759 0.00023
NM_001369369.1(FOXN1):c.1886C>T (p.Thr629Met) rs368962978 0.00016
NM_001369369.1(FOXN1):c.1618G>A (p.Asp540Asn) rs181483148 0.00013
NM_001369369.1(FOXN1):c.497C>T (p.Ala166Val) rs367793349 0.00013
NM_001369369.1(FOXN1):c.724C>T (p.Pro242Ser) rs140921495 0.00013
NM_001369369.1(FOXN1):c.*533G>A rs763993084 0.00011
NM_001369369.1(FOXN1):c.*66C>T rs768847497 0.00011
NM_001369369.1(FOXN1):c.*206G>A rs774039480 0.00010
NM_001369369.1(FOXN1):c.1727C>T (p.Pro576Leu) rs756165992 0.00010
NM_001369369.1(FOXN1):c.*280C>G rs532847274 0.00006
NM_001369369.1(FOXN1):c.*622C>G rs886052763 0.00006
NM_001369369.1(FOXN1):c.*15C>T rs557508550 0.00005
NM_001369369.1(FOXN1):c.159C>T (p.Ser53=) rs368024968 0.00005
NM_001369369.1(FOXN1):c.1706C>A (p.Ser569Tyr) rs149225004 0.00004
NM_001369369.1(FOXN1):c.1921A>G (p.Ser641Gly) rs146028232 0.00004
NM_001369369.1(FOXN1):c.987C>T (p.Phe329=) rs184956155 0.00004
NM_001369369.1(FOXN1):c.*53C>T rs1040034988 0.00003
NM_001369369.1(FOXN1):c.1203C>A (p.Pro401=) rs375002692 0.00003
NM_001369369.1(FOXN1):c.1815C>T (p.Ser605=) rs369425799 0.00003
NM_001369369.1(FOXN1):c.64G>A (p.Glu22Lys) rs545707585 0.00003
NM_001369369.1(FOXN1):c.709G>A (p.Gly237Ser) rs745321270 0.00003
NM_001369369.1(FOXN1):c.*323G>C rs1215102888 0.00002
NM_001369369.1(FOXN1):c.*496C>T rs886052761 0.00002
NM_001369369.1(FOXN1):c.147G>A (p.Ser49=) rs148006498 0.00002
NM_001369369.1(FOXN1):c.226G>A (p.Glu76Lys) rs142248984 0.00002
NM_001369369.1(FOXN1):c.539G>C (p.Trp180Ser) rs765090704 0.00002
NM_001369369.1(FOXN1):c.*300C>T rs569202493 0.00001
NM_001369369.1(FOXN1):c.*620C>T rs886052762 0.00001
NM_001369369.1(FOXN1):c.-14-28A>G rs1363021935 0.00001
NM_001369369.1(FOXN1):c.1135+3G>A rs755005215 0.00001
NM_001369369.1(FOXN1):c.1216G>A (p.Gly406Ser) rs772140783 0.00001
NM_001369369.1(FOXN1):c.1554C>T (p.Thr518=) rs146694795 0.00001
NM_001369369.1(FOXN1):c.1651G>T (p.Asp551Tyr) rs757413677 0.00001
NM_001369369.1(FOXN1):c.1752G>A (p.Gly584=) rs769103640 0.00001
NM_001369369.1(FOXN1):c.373C>A (p.Pro125Thr) rs757155505 0.00001
NM_001369369.1(FOXN1):c.42G>A (p.Pro14=) rs553583507 0.00001
NM_001369369.1(FOXN1):c.589-12C>A rs185748978 0.00001
NM_001369369.1(FOXN1):c.*154G>A rs188710272
NM_001369369.1(FOXN1):c.*165C>G rs577342392
NM_001369369.1(FOXN1):c.*461C>T rs886052760
NM_001369369.1(FOXN1):c.123+10C>T rs575898161
NM_001369369.1(FOXN1):c.124-14C>T rs771852938
NM_001369369.1(FOXN1):c.1549G>T (p.Asp517Tyr) rs200053524
NM_001369369.1(FOXN1):c.1822C>T (p.Leu608=) rs886052758
NM_001369369.1(FOXN1):c.611C>T (p.Pro204Leu) rs886052757

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.