ClinVar Miner

List of variants in gene ERF reported as pathogenic for Inborn genetic diseases

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_006494.4(ERF):c.266A>G (p.Tyr89Cys) rs886041001
NM_006494.4(ERF):c.619C>T (p.Arg207Ter) rs1555750795
NM_006494.4(ERF):c.697C>T (p.Arg233Ter) rs2036401878
NM_006494.4(ERF):c.785del (p.Pro262fs) rs1555750721
NM_006494.4(ERF):c.787C>T (p.Gln263Ter)
NM_006494.4(ERF):c.891_892del (p.Gly299fs) rs587777007

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