ClinVar Miner

List of variants in gene MEIS2 studied for cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies

Included ClinVar conditions (1):
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Total variants: 87
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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
GRCh37/hg19 15q14(chr15:37188738-37188988)x1
NG_029108.1:g.120078_181902dup
NM_170675.5(MEIS2):c.1025C>G (p.Ser342Ter) rs2141225080
NM_170675.5(MEIS2):c.1030C>T (p.Arg344Ter)
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.454C>T (p.Gln152Ter)
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)

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