ClinVar Miner

List of variants studied for Borjeson-Forssman-Lehmann syndrome by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_001015877.2(PHF6):c.927C>T (p.Asp309=) rs112199174 0.00809
NM_001015877.2(PHF6):c.729+4A>G rs188961105 0.00691
NM_001015877.2(PHF6):c.730-11T>G rs192977933 0.00364
NM_001015877.2(PHF6):c.374+8T>C rs142596708 0.00360
NM_001015877.2(PHF6):c.241-13C>T rs375674521 0.00015
NM_001015877.2(PHF6):c.414C>T (p.Ser138=) rs200423380 0.00010
NM_001015877.2(PHF6):c.714C>T (p.Ala238=) rs761180935 0.00008
NM_001015877.2(PHF6):c.487C>T (p.Arg163Cys) rs199945885 0.00007
NM_001015877.2(PHF6):c.528A>G (p.Ser176=) rs150815514 0.00004
NM_001015877.2(PHF6):c.342A>C (p.Gln114His) rs1303947958 0.00003
NM_001015877.2(PHF6):c.132G>A (p.Lys44=) rs759708359 0.00002
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
NC_000023.10:g.(?_133511648)_(133559360_?)del
NM_001015877.2(PHF6):c.1011AGA[1] (p.Glu338del)
NM_001015877.2(PHF6):c.1015G>A (p.Asp339Asn)
NM_001015877.2(PHF6):c.1017T>C (p.Asp339=)
NM_001015877.2(PHF6):c.1020_1022del (p.Glu341del)
NM_001015877.2(PHF6):c.1024C>T (p.Arg342Ter) rs132630297
NM_001015877.2(PHF6):c.1052A>G (p.Glu351Gly)
NM_001015877.2(PHF6):c.1070T>G (p.Leu357Arg)
NM_001015877.2(PHF6):c.1073C>A (p.Thr358Asn)
NM_001015877.2(PHF6):c.128A>G (p.His43Arg)
NM_001015877.2(PHF6):c.138+10C>T rs778255925
NM_001015877.2(PHF6):c.138+11C>T
NM_001015877.2(PHF6):c.139-11_139-7del rs781657256
NM_001015877.2(PHF6):c.139-13del rs2077286325
NM_001015877.2(PHF6):c.139-15A>T
NM_001015877.2(PHF6):c.157G>T (p.Val53Leu)
NM_001015877.2(PHF6):c.20A>G (p.Gln7Arg)
NM_001015877.2(PHF6):c.234G>A (p.Thr78=)
NM_001015877.2(PHF6):c.241-17T>C
NM_001015877.2(PHF6):c.241-18T>C
NM_001015877.2(PHF6):c.241-20A>G
NM_001015877.2(PHF6):c.241-7G>T
NM_001015877.2(PHF6):c.271A>G (p.Thr91Ala)
NM_001015877.2(PHF6):c.274A>G (p.Ile92Val)
NM_001015877.2(PHF6):c.294A>C (p.Thr98=)
NM_001015877.2(PHF6):c.2T>C (p.Met1Thr) rs132630300
NM_001015877.2(PHF6):c.310C>G (p.His104Asp) rs2077363957
NM_001015877.2(PHF6):c.324A>G (p.Ala108=)
NM_001015877.2(PHF6):c.346C>T (p.Arg116Ter)
NM_001015877.2(PHF6):c.374+16_374+20del
NM_001015877.2(PHF6):c.374+17T>C
NM_001015877.2(PHF6):c.374+21dup
NM_001015877.2(PHF6):c.374+22_374+26del
NM_001015877.2(PHF6):c.374T>A (p.Met125Lys)
NM_001015877.2(PHF6):c.375-4del
NM_001015877.2(PHF6):c.375G>A (p.Met125Ile)
NM_001015877.2(PHF6):c.385C>T (p.Arg129Ter)
NM_001015877.2(PHF6):c.399A>G (p.Lys133=) rs780193840
NM_001015877.2(PHF6):c.407A>G (p.His136Arg)
NM_001015877.2(PHF6):c.418+17C>T
NM_001015877.2(PHF6):c.419-16G>A
NM_001015877.2(PHF6):c.419-16G>C
NM_001015877.2(PHF6):c.419-17T>C
NM_001015877.2(PHF6):c.431A>G (p.Glu144Gly)
NM_001015877.2(PHF6):c.440A>T (p.Asn147Ile) rs2077459540
NM_001015877.2(PHF6):c.537C>G (p.Thr179=)
NM_001015877.2(PHF6):c.577A>T (p.Ser193Cys)
NM_001015877.2(PHF6):c.585+14A>C rs2124248594
NM_001015877.2(PHF6):c.585+14dup
NM_001015877.2(PHF6):c.585+8A>G
NM_001015877.2(PHF6):c.586-14T>C
NM_001015877.2(PHF6):c.586-18T>C
NM_001015877.2(PHF6):c.623C>T (p.Thr208Ile)
NM_001015877.2(PHF6):c.648T>C (p.His216=)
NM_001015877.2(PHF6):c.696T>C (p.Asn232=)
NM_001015877.2(PHF6):c.730-14T>C
NM_001015877.2(PHF6):c.730-16C>A
NM_001015877.2(PHF6):c.762A>C (p.Thr254=)
NM_001015877.2(PHF6):c.766_768del (p.Ser256del)
NM_001015877.2(PHF6):c.804A>G (p.Val268=)
NM_001015877.2(PHF6):c.820C>T (p.Arg274Ter) rs1556019107
NM_001015877.2(PHF6):c.829A>G (p.Arg277Gly)
NM_001015877.2(PHF6):c.829del (p.Arg277fs) rs2077467552
NM_001015877.2(PHF6):c.835-16C>A
NM_001015877.2(PHF6):c.84T>C (p.Cys28=)
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.870T>C (p.Ile290=)
NM_001015877.2(PHF6):c.888C>G (p.Ala296=)
NM_001015877.2(PHF6):c.89A>G (p.Gln30Arg)

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