ClinVar Miner

List of variants in gene PCDH19 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001184880.2(PCDH19):c.2617-7A>G rs370859689 0.00035
NM_001184880.2(PCDH19):c.1209C>T (p.Ser403=) rs372006606 0.00018
NM_001184880.2(PCDH19):c.2965A>C (p.Asn989His) rs201611496 0.00011
NM_001184880.2(PCDH19):c.545G>C (p.Gly182Ala) rs727504067 0.00009
NM_001184880.2(PCDH19):c.539C>G (p.Thr180Arg) rs796052803 0.00003
NM_001184880.2(PCDH19):c.2721T>C (p.Ser907=) rs376946966 0.00002
NM_001184880.2(PCDH19):c.479G>A (p.Ser160Asn) rs794726899 0.00002
NM_001184880.2(PCDH19):c.1434C>T (p.Arg478=) rs137962077 0.00001
NM_001184880.2(PCDH19):c.228C>T (p.Pro76=) rs794726898 0.00001
NM_001184880.2(PCDH19):c.3057G>A (p.Gly1019=) rs886043091 0.00001
NM_001184880.2(PCDH19):c.3248A>G (p.Tyr1083Cys) rs1315498661 0.00001
NM_001184880.2(PCDH19):c.559T>G (p.Phe187Val) rs764980282 0.00001
NM_001184880.2(PCDH19):c.1401G>T (p.Thr467=) rs794726896
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg) rs796052819
NM_001184880.2(PCDH19):c.271CTG[1] (p.Leu92del) rs727504068
NM_001184880.2(PCDH19):c.301A>G (p.Ile101Val) rs779017688
NM_001184880.2(PCDH19):c.3127A>T (p.Ile1043Phe) rs189342249
NM_001184880.2(PCDH19):c.406_408dup (p.Leu136dup) rs886043865

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