ClinVar Miner

List of variants reported as likely pathogenic for Mandibulofacial dysostosis-microcephaly syndrome

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_004247.4(EFTUD2):c.1137G>C (p.Lys379Asn)
NM_004247.4(EFTUD2):c.1286-2A>G rs2145474253
NM_004247.4(EFTUD2):c.1286-2del
NM_004247.4(EFTUD2):c.1332del (p.Ala445fs)
NM_004247.4(EFTUD2):c.1542C>A (p.Tyr514Ter) rs749855263
NM_004247.4(EFTUD2):c.1607+3A>G rs2145469964
NM_004247.4(EFTUD2):c.1649T>A (p.Val550Asp) rs2145461096
NM_004247.4(EFTUD2):c.1742del (p.Lys581fs) rs1597795170
NM_004247.4(EFTUD2):c.1946C>G (p.Ser649Ter) rs2145455322
NM_004247.4(EFTUD2):c.2023_2026dup (p.Ala676fs)
NM_004247.4(EFTUD2):c.2033C>T (p.Thr678Met) rs781402078
NM_004247.4(EFTUD2):c.2045+2T>G rs863224868
NM_004247.4(EFTUD2):c.2133-2A>G
NM_004247.4(EFTUD2):c.2166C>A (p.Tyr722Ter) rs1240441464
NM_004247.4(EFTUD2):c.2309T>C (p.Phe770Ser)
NM_004247.4(EFTUD2):c.2335C>T (p.Leu779Phe) rs1597789186
NM_004247.4(EFTUD2):c.2551del (p.Ala851fs) rs1555564126
NM_004247.4(EFTUD2):c.2562-2_2562-1del rs2050474390
NM_004247.4(EFTUD2):c.334dup (p.Thr112fs)
NM_004247.4(EFTUD2):c.351-2A>G
NM_004247.4(EFTUD2):c.426+1dup
NM_004247.4(EFTUD2):c.702+2T>C
NM_004247.4(EFTUD2):c.793del (p.Leu265fs)
NM_004247.4(EFTUD2):c.828C>A (p.Tyr276Ter)
NM_004247.4(EFTUD2):c.870-1G>T rs2145503914
NM_004247.4(EFTUD2):c.870-5_870-4del rs2145503920
NM_004247.4:c.(350+1_351-1)_(492+1_493-1)del

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