ClinVar Miner

List of variants in gene PHF6 studied for PHF6-related disorder

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_001015877.2(PHF6):c.927C>T (p.Asp309=) rs112199174 0.00753
NM_001015877.2(PHF6):c.729+4A>G rs188961105 0.00691
NM_001015877.2(PHF6):c.414C>T (p.Ser138=) rs200423380 0.00011
NM_001015877.2(PHF6):c.487C>T (p.Arg163Cys) rs199945885 0.00007
NM_001015877.2(PHF6):c.123G>A (p.Ala41=) rs573685409 0.00004
NM_001015877.2(PHF6):c.528A>G (p.Ser176=) rs150815514 0.00004
NM_001015877.2(PHF6):c.648T>C (p.His216=) rs755211450 0.00004
NM_001015877.2(PHF6):c.24A>G (p.Lys8=) rs769068524 0.00003
NM_001015877.2(PHF6):c.39A>G (p.Arg13=) rs1259223307 0.00003
NM_001015877.2(PHF6):c.834+87A>G rs920718081 0.00003
NM_001015877.2(PHF6):c.870T>C (p.Ile290=) rs763116203 0.00003
NM_001015877.2(PHF6):c.888C>G (p.Ala296=) rs751710275 0.00003
NM_001015877.2(PHF6):c.497G>A (p.Arg166Lys) rs368966223 0.00002
NM_001015877.2(PHF6):c.834+109T>C rs751688121 0.00002
NM_001015877.2(PHF6):c.834+28A>G rs763321009 0.00002
NM_001015877.2(PHF6):c.159A>G (p.Val53=) rs769976257 0.00001
NM_001015877.2(PHF6):c.407A>G (p.His136Arg) rs774353684 0.00001
NM_001015877.2(PHF6):c.469A>G (p.Lys157Glu) rs1186430202 0.00001
NM_001015877.2(PHF6):c.48A>G (p.Lys16=) rs2077284056 0.00001
NM_001015877.2(PHF6):c.9C>T (p.Ser3=) rs779548130 0.00001
NM_001015877.2(PHF6):c.*1098+4T>C
NM_001015877.2(PHF6):c.1045A>G (p.Lys349Glu) rs1054974225
NM_001015877.2(PHF6):c.138+10C>T rs778255925
NM_001015877.2(PHF6):c.241-3T>C
NM_001015877.2(PHF6):c.260G>A (p.Cys87Tyr)
NM_001015877.2(PHF6):c.395A>G (p.Lys132Arg)
NM_001015877.2(PHF6):c.418+7C>A
NM_001015877.2(PHF6):c.445C>A (p.His149Asn)
NM_001015877.2(PHF6):c.459C>A (p.Pro153=)
NM_001015877.2(PHF6):c.476A>G (p.Lys159Arg)
NM_001015877.2(PHF6):c.537C>T (p.Thr179=)
NM_001015877.2(PHF6):c.623C>T (p.Thr208Ile) rs1295117696
NM_001015877.2(PHF6):c.645C>T (p.Cys215=)
NM_001015877.2(PHF6):c.701A>G (p.Lys234Arg)
NM_001015877.2(PHF6):c.729+5G>A rs993377069
NM_001015877.2(PHF6):c.730-8T>C
NM_001015877.2(PHF6):c.761C>T (p.Thr254Ile) rs2520636009
NM_001015877.2(PHF6):c.834+105C>T
NM_001015877.2(PHF6):c.834+24T>C
NM_001015877.2(PHF6):c.834+53_834+58del rs762323879
NM_001015877.2(PHF6):c.834+62T>C
NM_001015877.2(PHF6):c.834+87A>C rs920718081
NM_001015877.2(PHF6):c.834+96A>G
NM_001015877.2(PHF6):c.848G>A (p.Cys283Tyr) rs2520644261
NM_001015877.2(PHF6):c.894T>C (p.Val298=)
NM_001015877.2(PHF6):c.940A>G (p.Ile314Val) rs2124252852
NM_001015877.2(PHF6):c.986A>G (p.His329Arg)

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