ClinVar Miner

List of variants in gene PHF8 studied for X-linked disease

Included ClinVar conditions (274):
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Gene type:
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_015107.3(PHF8):c.2650-35C>G rs7886772 0.13065
NM_015107.3(PHF8):c.2720G>A (p.Arg907His) rs142630105 0.00233
NM_015107.3(PHF8):c.2117A>G (p.Tyr706Cys) rs782680617 0.00003
NM_015107.3(PHF8):c.-56C>T rs376594438 0.00002
NM_015107.3(PHF8):c.2845C>T (p.Leu949Phe) rs1342892989 0.00002
NM_015107.3(PHF8):c.1731-2A>G rs1437750762 0.00001
NM_015107.3(PHF8):c.2258G>A (p.Arg753Gln) rs1263803925 0.00001
NM_015107.3(PHF8):c.-60C>T rs1557116325
NM_015107.3(PHF8):c.-63C>A rs781976643
NM_015107.3(PHF8):c.1185T>C (p.His395=) rs1468021929
NM_015107.3(PHF8):c.1233+6T>C
NM_015107.3(PHF8):c.1349A>G (p.Lys450Arg) rs2065708006
NM_015107.3(PHF8):c.1577A>G (p.Asp526Gly)
NM_015107.3(PHF8):c.1620del (p.Ala541fs) rs2149839580
NM_015107.3(PHF8):c.1880del (p.Lys627fs) rs2065590491
NM_015107.3(PHF8):c.197G>A (p.Arg66His) rs1557110261
NM_015107.3(PHF8):c.1995+1G>A
NM_015107.3(PHF8):c.2129+39G>C rs2065554551
NM_015107.3(PHF8):c.2132A>C (p.Glu711Ala)
NM_015107.3(PHF8):c.2318G>C (p.Arg773Pro)
NM_015107.3(PHF8):c.2345G>C (p.Arg782Pro) rs782358977
NM_015107.3(PHF8):c.2444-2A>G rs1603305030
NM_015107.3(PHF8):c.2455del (p.Leu819fs) rs2065126287
NM_015107.3(PHF8):c.2492G>A (p.Arg831Gln) rs2149796421
NM_015107.3(PHF8):c.2959G>A (p.Gly987Ser)
NM_015107.3(PHF8):c.377del (p.Leu126fs) rs1057518729
NM_015107.3(PHF8):c.529A>T (p.Lys177Ter) rs121918523
NM_015107.3(PHF8):c.631C>T (p.Arg211Ter) rs121918522
NM_015107.3(PHF8):c.738dup (p.His247fs)
NM_015107.3(PHF8):c.836T>C (p.Phe279Ser) rs121918524
NM_015107.3(PHF8):c.865A>T (p.Asn289Tyr)
NM_015107.3(PHF8):c.943_946+8del

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