ClinVar Miner

List of variants in gene combination FOXP1, LOC126806714 reported as likely pathogenic for Intellectual disability-severe speech delay-mild dysmorphism syndrome

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001349338.3(FOXP1):c.1429-13_1429-3del rs1559617016
NM_001349338.3(FOXP1):c.1429-1G>A rs2545110803
NM_001349338.3(FOXP1):c.1433T>G (p.Ile478Ser) rs2545110718
NM_001349338.3(FOXP1):c.1451del (p.Lys484fs) rs2545110459
NM_001349338.3(FOXP1):c.1458_1461dup (p.Leu488fs) rs2037704254
NM_001349338.3(FOXP1):c.1475A>G (p.Tyr492Cys) rs2037702385
NM_001349338.3(FOXP1):c.1478_1483dup (p.Trp494_Phe495insTyrTrp) rs2545110016
NM_001349338.3(FOXP1):c.1490G>C (p.Arg497Pro)
NM_001349338.3(FOXP1):c.1506C>G (p.Phe502Leu) rs1057524152

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