List of variants reported as uncertain significance for MEHMO syndrome

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001415.4(EIF2S3):c.1003G>A (p.Gly335Ser)	rs2147129316
NM_001415.4(EIF2S3):c.1046G>A (p.Arg349Gln)
NM_001415.4(EIF2S3):c.1183-15A>G	rs1379305185
NM_001415.4(EIF2S3):c.1403C>G (p.Thr468Arg)	rs2147132795
NM_001415.4(EIF2S3):c.324T>A (p.Ser108Arg)	rs1057515578
NM_001415.4(EIF2S3):c.65C>T (p.Thr22Ile)
NM_001415.4(EIF2S3):c.717A>G (p.Ile239Met)

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