ClinVar Miner

List of variants in gene EFTUD2 reported by Baylor Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_004247.4(EFTUD2):c.1331del (p.Gly444fs) rs2050697632
NM_004247.4(EFTUD2):c.1732C>T (p.Arg578Ter) rs1057520673
NM_004247.4(EFTUD2):c.2309T>C (p.Phe770Ser)
NM_004247.4(EFTUD2):c.2438G>A (p.Arg813Lys) rs1567728359
NM_004247.4(EFTUD2):c.2562-2del rs2145431661
NM_004247.4(EFTUD2):c.2698_2701del (p.Val900fs) rs886039349
NM_004247.4(EFTUD2):c.378del (p.Glu127fs) rs2051113996
NM_004247.4(EFTUD2):c.793del (p.Leu265fs)

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