ClinVar Miner

List of variants in gene FANCA, LOC132090445, ZNF276 studied for bone disorder

Included ClinVar conditions (1436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.3828+10A>G rs368372404 0.00004
NM_000135.4(FANCA):c.3828+1G>C rs1432988639 0.00003
NM_000135.4(FANCA):c.3828+12C>G rs556919856 0.00002
NM_000135.4(FANCA):c.3825A>G (p.Ser1275=) rs886052480 0.00001
NM_000135.4(FANCA):c.3826A>G (p.Asn1276Asp) rs2062114365
NM_000135.4(FANCA):c.3828+10A>C rs368372404
NM_000135.4(FANCA):c.3828+11C>G
NM_000135.4(FANCA):c.3828+12C>A rs556919856
NM_000135.4(FANCA):c.3828+15_3828+43del rs2544094259
NM_000135.4(FANCA):c.3828+16C>A rs900858198
NM_000135.4(FANCA):c.3828+16C>T rs900858198
NM_000135.4(FANCA):c.3828+17C>T rs2544094590
NM_000135.4(FANCA):c.3828+1G>A rs1432988639
NM_000135.4(FANCA):c.3828+1G>T rs1432988639
NM_000135.4(FANCA):c.3828+1del rs2544094801
NM_000135.4(FANCA):c.3828+2dup rs2062114186
NM_000135.4(FANCA):c.3828+7C>G rs1443117288
NM_000135.4(FANCA):c.3828+7C>T rs1443117288
NM_000135.4(FANCA):c.3828T>C (p.Asn1276=) rs1270807019

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.