ClinVar Miner

List of variants reported as uncertain significance for communication disorder by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_007347.5(AP4E1):c.613C>A (p.His205Asn) rs148499164 0.00052
NM_007347.5(AP4E1):c.2149C>T (p.Pro717Ser) rs150743968 0.00005
NM_007347.5(AP4E1):c.1675A>C (p.Thr559Pro) rs1176175925
NM_007347.5(AP4E1):c.382C>T (p.His128Tyr) rs2063738778

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