ClinVar Miner

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

Included ClinVar conditions (1):
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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_170675.5(MEIS2):c.1025C>G (p.Ser342Ter) rs2141225080
NM_170675.5(MEIS2):c.525del (p.Arg174_Tyr175insTer)
NM_170675.5(MEIS2):c.777_781del (p.Ala260fs)
NM_170675.5(MEIS2):c.877G>C (p.Ala293Pro) rs1385058993
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.973A>G (p.Asn325Asp) rs2141389688
NM_170675.5(MEIS2):c.986A>G (p.Asn329Ser)
NM_170675.5(MEIS2):c.992GAA[2] (p.Arg333del) rs879255264
NM_170675.5(MEIS2):c.999A>C (p.Arg333Ser)

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