ClinVar Miner

List of variants reported as uncertain significance for cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_170675.5(MEIS2):c.1129A>C (p.Met377Leu) rs534636474 0.00004
NM_170675.5(MEIS2):c.607C>A (p.Leu203Ile) rs185278462 0.00002
NM_170675.5(MEIS2):c.387+6G>C rs375137883 0.00001
NM_170675.5(MEIS2):c.505G>A (p.Asp169Asn) rs1039511168 0.00001
NM_170675.5(MEIS2):c.733G>A (p.Gly245Arg) rs375357305 0.00001
NM_170675.5(MEIS2):c.1031G>A (p.Arg344Gln) rs2141225052
NM_170675.5(MEIS2):c.132G>T (p.Pro44=)
NM_170675.5(MEIS2):c.142A>G (p.Thr48Ala) rs1596139159
NM_170675.5(MEIS2):c.17A>C (p.Asp6Ala) rs757192671
NM_170675.5(MEIS2):c.576_578inv (p.Arg192_Asp193delinsSerLeu)
NM_170675.5(MEIS2):c.904C>A (p.Pro302Thr)
NM_170675.5(MEIS2):c.97A>G (p.Ile33Val) rs774160502

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.