ClinVar Miner

Variants in gene combination ASPA, SPATA22 with conflicting interpretations reported as "likely benign and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000049.4(ASPA):c.832G>A (p.Val278Met) rs140581464 0.00028
NM_000049.4(ASPA):c.230A>G (p.Asn77Ser) rs574328488 0.00017
NM_000049.4(ASPA):c.427A>G (p.Ile143Val) rs199565861 0.00014
NM_000049.4(ASPA):c.78C>T (p.Thr26=) rs145616193 0.00011
NM_000049.4(ASPA):c.906G>A (p.Thr302=) rs371394875 0.00009
NM_000049.4(ASPA):c.237-6T>C rs370219865 0.00008
NM_000049.4(ASPA):c.840C>T (p.Pro280=) rs148081446 0.00005
NM_000049.4(ASPA):c.448C>T (p.Leu150=) rs1597432362 0.00001
NM_000049.4(ASPA):c.637A>G (p.Lys213Glu) rs528179434 0.00001
NM_000049.4(ASPA):c.807G>A (p.Thr269=) rs759106494 0.00001
NM_000049.4(ASPA):c.867C>T (p.Tyr289=) rs375736464 0.00001
NM_000049.4(ASPA):c.723T>C (p.Ala241=) rs2073877008

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.