ClinVar Miner

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

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Total variants: 48
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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.369T>G (p.Ile123Met) rs764747261 0.00003
NM_001015877.2(PHF6):c.374T>A (p.Met125Lys) rs1172498196 0.00003
NM_001015877.2(PHF6):c.176A>G (p.Asn59Ser) rs202007952 0.00002
NM_001015877.2(PHF6):c.497G>A (p.Arg166Lys) rs368966223 0.00002
NM_001015877.2(PHF6):c.688A>G (p.Ile230Val) rs794727879 0.00002
NM_001015877.2(PHF6):c.233C>T (p.Thr78Met) rs767406620 0.00001
NM_001015877.2(PHF6):c.247T>G (p.Ser83Ala) rs762897039 0.00001
NM_001015877.2(PHF6):c.380A>G (p.Tyr127Cys) rs911570058 0.00001
NM_001015877.2(PHF6):c.407A>G (p.His136Arg) rs774353684 0.00001
NM_001015877.2(PHF6):c.-47+5G>A rs2077265772
NM_001015877.2(PHF6):c.1011AGA[1] (p.Glu338del) rs2520675525
NM_001015877.2(PHF6):c.1015G>A (p.Asp339Asn) rs2520675546
NM_001015877.2(PHF6):c.1020_1022del (p.Glu341del) rs2520675599
NM_001015877.2(PHF6):c.1023_1026dup (p.Glu343fs)
NM_001015877.2(PHF6):c.1047A>C (p.Lys349Asn)
NM_001015877.2(PHF6):c.1052A>G (p.Glu351Gly) rs762116442
NM_001015877.2(PHF6):c.1070T>G (p.Leu357Arg)
NM_001015877.2(PHF6):c.1073C>A (p.Thr358Asn)
NM_001015877.2(PHF6):c.113del (p.Lys38fs) rs1057519064
NM_001015877.2(PHF6):c.122C>T (p.Ala41Val) rs760978695
NM_001015877.2(PHF6):c.128A>G (p.His43Arg)
NM_001015877.2(PHF6):c.138+4A>G
NM_001015877.2(PHF6):c.157G>T (p.Val53Leu) rs2520470391
NM_001015877.2(PHF6):c.205G>A (p.Asp69Asn)
NM_001015877.2(PHF6):c.20A>G (p.Gln7Arg)
NM_001015877.2(PHF6):c.271A>G (p.Thr91Ala)
NM_001015877.2(PHF6):c.310C>G (p.His104Asp) rs2077363957
NM_001015877.2(PHF6):c.31C>T (p.Pro11Ser)
NM_001015877.2(PHF6):c.373A>C (p.Met125Leu)
NM_001015877.2(PHF6):c.375G>A (p.Met125Ile) rs2520543250
NM_001015877.2(PHF6):c.383G>A (p.Cys128Tyr) rs2520543360
NM_001015877.2(PHF6):c.431A>G (p.Glu144Gly)
NM_001015877.2(PHF6):c.440A>T (p.Asn147Ile) rs2077459540
NM_001015877.2(PHF6):c.44G>A (p.Arg15His)
NM_001015877.2(PHF6):c.488G>A (p.Arg163His) rs2124248390
NM_001015877.2(PHF6):c.577A>T (p.Ser193Cys)
NM_001015877.2(PHF6):c.757ACA[2] (p.Thr255del) rs1556019105
NM_001015877.2(PHF6):c.758C>G (p.Thr253Arg)
NM_001015877.2(PHF6):c.766_768del (p.Ser256del) rs2520636040
NM_001015877.2(PHF6):c.823G>A (p.Gly275Arg) rs1602716458
NM_001015877.2(PHF6):c.829A>G (p.Arg277Gly) rs2520636410
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.896A>G (p.Lys299Arg)
NM_001015877.2(PHF6):c.89A>G (p.Gln30Arg) rs2077284380
NM_001015877.2(PHF6):c.947A>T (p.Asn316Ile) rs2520644764
NM_001015877.2(PHF6):c.969-6T>G rs2077504087

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