ClinVar Miner

List of variants in gene ERF studied for Inborn genetic diseases

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_006494.4(ERF):c.1046C>T (p.Pro349Leu) rs144812092 0.00058
NM_006494.4(ERF):c.1262C>T (p.Pro421Leu) rs533363033 0.00043
NM_006494.4(ERF):c.1478G>A (p.Arg493His) rs762382429 0.00003
NM_006494.4(ERF):c.1636C>T (p.Arg546Ter) rs764412749 0.00001
NM_006494.4(ERF):c.824T>C (p.Leu275Pro) rs756557668 0.00001
NM_006494.4(ERF):c.1031G>A (p.Arg344His)
NM_006494.4(ERF):c.1051C>G (p.Pro351Ala)
NM_006494.4(ERF):c.1060G>A (p.Ala354Thr)
NM_006494.4(ERF):c.1088C>T (p.Ser363Leu)
NM_006494.4(ERF):c.1288A>G (p.Ile430Val)
NM_006494.4(ERF):c.1372C>G (p.Arg458Gly) rs766642440
NM_006494.4(ERF):c.1414C>T (p.Pro472Ser)
NM_006494.4(ERF):c.1536G>C (p.Lys512Asn)
NM_006494.4(ERF):c.1562C>G (p.Ala521Gly)
NM_006494.4(ERF):c.1565G>C (p.Gly522Ala)
NM_006494.4(ERF):c.17_22+10dup
NM_006494.4(ERF):c.212A>C (p.Lys71Thr)
NM_006494.4(ERF):c.221C>G (p.Pro74Arg)
NM_006494.4(ERF):c.248G>A (p.Arg83Gln) rs758855122
NM_006494.4(ERF):c.266A>G (p.Tyr89Cys) rs886041001
NM_006494.4(ERF):c.289A>G (p.Thr97Ala)
NM_006494.4(ERF):c.383T>G (p.Val128Gly) rs781452659
NM_006494.4(ERF):c.479G>A (p.Arg160His)
NM_006494.4(ERF):c.596C>T (p.Pro199Leu)
NM_006494.4(ERF):c.619C>T (p.Arg207Ter) rs1555750795
NM_006494.4(ERF):c.661C>G (p.Pro221Ala)
NM_006494.4(ERF):c.697C>T (p.Arg233Ter) rs2036401878
NM_006494.4(ERF):c.698G>A (p.Arg233Gln)
NM_006494.4(ERF):c.785C>T (p.Pro262Leu)
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
NM_006494.4(ERF):c.934C>T (p.Arg312Trp)
NM_006494.4(ERF):c.961G>A (p.Val321Ile)

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