ClinVar Miner

List of variants reported as uncertain significance for Borjeson-Forssman-Lehmann syndrome by Invitae

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001015877.2(PHF6):c.342A>C (p.Gln114His) rs1303947958 0.00003
NM_001015877.2(PHF6):c.176A>G (p.Asn59Ser) rs202007952 0.00002
NM_001015877.2(PHF6):c.233C>T (p.Thr78Met) rs767406620 0.00002
NM_001015877.2(PHF6):c.122C>T (p.Ala41Val) rs760978695 0.00001
NM_001015877.2(PHF6):c.247T>G (p.Ser83Ala) rs762897039 0.00001
NM_001015877.2(PHF6):c.1011AGA[1] (p.Glu338del)
NM_001015877.2(PHF6):c.1015G>A (p.Asp339Asn)
NM_001015877.2(PHF6):c.1020_1022del (p.Glu341del)
NM_001015877.2(PHF6):c.1052A>G (p.Glu351Gly)
NM_001015877.2(PHF6):c.157G>T (p.Val53Leu)
NM_001015877.2(PHF6):c.310C>G (p.His104Asp) rs2077363957
NM_001015877.2(PHF6):c.374T>A (p.Met125Lys)
NM_001015877.2(PHF6):c.375G>A (p.Met125Ile)
NM_001015877.2(PHF6):c.440A>T (p.Asn147Ile) rs2077459540
NM_001015877.2(PHF6):c.623C>T (p.Thr208Ile)
NM_001015877.2(PHF6):c.766_768del (p.Ser256del)
NM_001015877.2(PHF6):c.829A>G (p.Arg277Gly)
NM_001015877.2(PHF6):c.865A>G (p.Thr289Ala) rs2077475371
NM_001015877.2(PHF6):c.86G>C (p.Gly29Ala) rs2077284343
NM_001015877.2(PHF6):c.89A>G (p.Gln30Arg)

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