ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 26
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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.1042del (p.Leu348fs) rs2141221274
NM_170675.5(MEIS2):c.1114del (p.Asp372fs)
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.1148-1G>T
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.236C>G (p.Ala79Gly) rs1208597242
NM_170675.5(MEIS2):c.576_578inv (p.Arg192_Asp193delinsSerLeu)
NM_170675.5(MEIS2):c.582C>A (p.Gly194=)
NM_170675.5(MEIS2):c.610T>G (p.Ser204Ala)
NM_170675.5(MEIS2):c.755-11878A>G rs2141794464
NM_170675.5(MEIS2):c.903T>A (p.His301Gln) rs2141389859
NM_170675.5(MEIS2):c.904C>A (p.Pro302Thr)
NM_170675.5(MEIS2):c.97A>G (p.Ile33Val) rs774160502

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