ClinVar Miner

List of variants reported as likely benign for Borjeson-Forssman-Lehmann syndrome

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Total variants: 32
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HGVS dbSNP gnomAD frequency
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.870T>C (p.Ile290=) rs763116203 0.00003
NM_001015877.2(PHF6):c.132G>A (p.Lys44=) rs759708359 0.00002
NM_001015877.2(PHF6):c.139-15A>T rs757604408 0.00002
NM_001015877.2(PHF6):c.418+17C>T rs779081699 0.00002
NM_001015877.2(PHF6):c.586-14T>C rs372007731 0.00002
NM_001015877.2(PHF6):c.84T>C (p.Cys28=) rs140590075 0.00002
NM_001015877.2(PHF6):c.138+11C>T rs371510284 0.00001
NM_001015877.2(PHF6):c.234G>A (p.Thr78=) rs1160852520 0.00001
NM_001015877.2(PHF6):c.762A>C (p.Thr254=) rs754317008 0.00001
NM_001015877.2(PHF6):c.1017T>C (p.Asp339=) rs1425520573
NM_001015877.2(PHF6):c.139-13del rs2077286325
NM_001015877.2(PHF6):c.241-18T>C rs771491388
NM_001015877.2(PHF6):c.241-7G>T rs2077363698
NM_001015877.2(PHF6):c.294A>C (p.Thr98=) rs766171622
NM_001015877.2(PHF6):c.324A>G (p.Ala108=) rs2520541125
NM_001015877.2(PHF6):c.374+17T>C rs1396361080
NM_001015877.2(PHF6):c.374+21dup
NM_001015877.2(PHF6):c.374+22_374+26del rs2077364377
NM_001015877.2(PHF6):c.375-4del rs2520543234
NM_001015877.2(PHF6):c.419-16G>A rs767866459
NM_001015877.2(PHF6):c.419-16G>C rs767866459
NM_001015877.2(PHF6):c.419-17T>C
NM_001015877.2(PHF6):c.585+14A>C rs2124248594
NM_001015877.2(PHF6):c.585+8A>G
NM_001015877.2(PHF6):c.623C>T (p.Thr208Ile) rs1295117696
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 rs1279888971
NM_001015877.2(PHF6):c.804A>G (p.Val268=) rs2520636228
NM_001015877.2(PHF6):c.835-16C>A rs2077475269

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