ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_170675.5(MEIS2):c.122_126delinsTGA (p.His41fs)
NM_170675.5(MEIS2):c.520C>T (p.Arg174Ter) rs1555471981
NM_170675.5(MEIS2):c.611C>G (p.Ser204Ter) rs749346955
NM_170675.5(MEIS2):c.639+1G>A rs2140088419
NM_170675.5(MEIS2):c.751C>T (p.Gln251Ter) rs2141917789
NM_170675.5(MEIS2):c.825dup (p.Arg276fs) rs1555456994
NM_170675.5(MEIS2):c.905C>T (p.Pro302Leu) rs1064793383
NM_170675.5(MEIS2):c.934_937del (p.Leu312fs) rs1595790647
NM_170675.5(MEIS2):c.977+2T>G rs2141389679
NM_170675.5(MEIS2):c.992G>A (p.Arg331Lys) rs2141225123
NM_170675.5(MEIS2):c.992GAA[2] (p.Arg333del) rs879255264

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