ClinVar Miner

List of variants in gene FOXP1 reported as pathogenic for Inborn genetic diseases

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001349338.3(FOXP1):c.1240_1241del (p.Leu414fs) rs1064793130
NM_001349338.3(FOXP1):c.1240dup (p.Leu414fs) rs797044652
NM_001349338.3(FOXP1):c.1531-9_1534dup rs2036514016
NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His) rs797045586
NM_001349338.3(FOXP1):c.1547_1552del (p.Asn516_Leu517del)
NM_001349338.3(FOXP1):c.1569del (p.Phe523fs) rs2036507371
NM_001349338.3(FOXP1):c.1574G>A (p.Arg525Gln) rs1553663084
NM_001349338.3(FOXP1):c.1652+5G>A rs794727216
NM_001349338.3(FOXP1):c.1652+5G>C rs794727216
NM_001349338.3(FOXP1):c.529C>T (p.Gln177Ter) rs1559807265
NM_001349338.3(FOXP1):c.598C>T (p.Gln200Ter) rs1553709919

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