ClinVar Miner

List of variants studied for cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 85
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_170675.5(MEIS2):c.732C>T (p.Ser244=) rs61734550 0.00230
NM_170675.5(MEIS2):c.507T>C (p.Asp169=) rs139184400 0.00168
NM_170675.5(MEIS2):c.630C>T (p.Leu210=) rs141907934 0.00043
NM_170675.5(MEIS2):c.810G>A (p.Pro270=) rs183075611 0.00026
NM_170675.5(MEIS2):c.471T>C (p.His157=) rs137952617 0.00021
NM_170675.5(MEIS2):c.24G>T (p.Leu8=) rs369672617 0.00018
NM_170675.5(MEIS2):c.1147+18G>A rs554939676 0.00011
NM_170675.5(MEIS2):c.120C>T (p.Asn40=) rs144628203 0.00011
NM_170675.5(MEIS2):c.1129A>C (p.Met377Leu) rs534636474 0.00004
NM_170675.5(MEIS2):c.150C>T (p.His50=) rs375301418 0.00004
NM_170675.5(MEIS2):c.939G>A (p.Ala313=) rs140793410 0.00004
NM_170675.5(MEIS2):c.495C>T (p.His165=) rs749484440 0.00002
NM_170675.5(MEIS2):c.580G>A (p.Gly194Ser) rs571091781 0.00002
NM_170675.5(MEIS2):c.607C>A (p.Leu203Ile) rs185278462 0.00002
NM_170675.5(MEIS2):c.237G>T (p.Ala79=) rs1349133404 0.00001
NM_170675.5(MEIS2):c.387+6G>C rs375137883 0.00001
NM_170675.5(MEIS2):c.490-7G>A rs1429889725 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.780T>G (p.Ala260=) rs747805966 0.00001
NG_029108.1:g.120078_181902dup
NM_170675.5(MEIS2):c.1025C>G (p.Ser342Ter) rs2141225080
NM_170675.5(MEIS2):c.1031G>A (p.Arg344Gln) rs2141225052
NM_170675.5(MEIS2):c.1042del (p.Leu348fs) rs2141221274
NM_170675.5(MEIS2):c.1065A>G (p.Gln355=)
NM_170675.5(MEIS2):c.1114del (p.Asp372fs)
NM_170675.5(MEIS2):c.1147+17C>T
NM_170675.5(MEIS2):c.1147+344A>G
NM_170675.5(MEIS2):c.1147+347del
NM_170675.5(MEIS2):c.1147+355G>T
NM_170675.5(MEIS2):c.1147+356G>A
NM_170675.5(MEIS2):c.1147+359A>G
NM_170675.5(MEIS2):c.1148-1G>T
NM_170675.5(MEIS2):c.122_126delinsTGA (p.His41fs)
NM_170675.5(MEIS2):c.13-19C>A rs373210575
NM_170675.5(MEIS2):c.13-19C>G
NM_170675.5(MEIS2):c.132G>T (p.Pro44=)
NM_170675.5(MEIS2):c.133C>G (p.Leu45Val) rs2140100040
NM_170675.5(MEIS2):c.142A>G (p.Thr48Ala) rs1596139159
NM_170675.5(MEIS2):c.167C>A (p.Pro56Gln) rs372646327
NM_170675.5(MEIS2):c.17A>C (p.Asp6Ala) rs757192671
NM_170675.5(MEIS2):c.202G>T (p.Ala68Ser)
NM_170675.5(MEIS2):c.236C>G (p.Ala79Gly) rs1208597242
NM_170675.5(MEIS2):c.246-17G>C rs755478168
NM_170675.5(MEIS2):c.327T>C (p.Ala109=)
NM_170675.5(MEIS2):c.330C>T (p.Gly110=)
NM_170675.5(MEIS2):c.388-17CT[2]
NM_170675.5(MEIS2):c.438+16C>T
NM_170675.5(MEIS2):c.490-16A>G
NM_170675.5(MEIS2):c.520C>T (p.Arg174Ter) rs1555471981
NM_170675.5(MEIS2):c.525del (p.Arg174_Tyr175insTer)
NM_170675.5(MEIS2):c.576_578inv (p.Arg192_Asp193delinsSerLeu)
NM_170675.5(MEIS2):c.579C>T (p.Asp193=)
NM_170675.5(MEIS2):c.582C>A (p.Gly194=)
NM_170675.5(MEIS2):c.603A>G (p.Glu201=) rs2140088565
NM_170675.5(MEIS2):c.610T>G (p.Ser204Ala)
NM_170675.5(MEIS2):c.611C>G (p.Ser204Ter) rs749346955
NM_170675.5(MEIS2):c.639+1G>A rs2140088419
NM_170675.5(MEIS2):c.657A>G (p.Arg219=) rs1041428405
NM_170675.5(MEIS2):c.687A>C (p.Ser229=) rs1183529709
NM_170675.5(MEIS2):c.6G>A (p.Ala2=)
NM_170675.5(MEIS2):c.751C>T (p.Gln251Ter) rs2141917789
NM_170675.5(MEIS2):c.754+7G>C
NM_170675.5(MEIS2):c.755-11878A>G rs2141794464
NM_170675.5(MEIS2):c.777_781del (p.Ala260fs)
NM_170675.5(MEIS2):c.825dup (p.Arg276fs) rs1555456994
NM_170675.5(MEIS2):c.877G>C (p.Ala293Pro) rs1385058993
NM_170675.5(MEIS2):c.897C>T (p.Leu299=) rs2141736264
NM_170675.5(MEIS2):c.903T>A (p.His301Gln) rs2141389859
NM_170675.5(MEIS2):c.904C>A (p.Pro302Thr)
NM_170675.5(MEIS2):c.905C>T (p.Pro302Leu) rs1064793383
NM_170675.5(MEIS2):c.907T>A (p.Tyr303Asn)
NM_170675.5(MEIS2):c.916G>A (p.Glu306Lys) rs2141389824
NM_170675.5(MEIS2):c.934_937del (p.Leu312fs) rs1595790647
NM_170675.5(MEIS2):c.964C>G (p.Gln322Glu) rs2058712732
NM_170675.5(MEIS2):c.968T>G (p.Val323Gly) rs2141389703
NM_170675.5(MEIS2):c.96G>T (p.Pro32=) rs1301048671
NM_170675.5(MEIS2):c.973A>G (p.Asn325Asp) rs2141389688
NM_170675.5(MEIS2):c.977+2T>G rs2141389679
NM_170675.5(MEIS2):c.97A>G (p.Ile33Val) rs774160502
NM_170675.5(MEIS2):c.986A>G (p.Asn329Ser)
NM_170675.5(MEIS2):c.992G>A (p.Arg331Lys) rs2141225123
NM_170675.5(MEIS2):c.992GAA[2] (p.Arg333del) rs879255264
NM_170675.5(MEIS2):c.999A>C (p.Arg333Ser)
Single allele

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.