ClinVar Miner

List of variants in gene PCDH19 reported as uncertain significance for not specified

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=) rs193148631 0.00228
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) rs201713027 0.00065
NM_001184880.2(PCDH19):c.3439G>A (p.Val1147Ile) rs138771033 0.00040
NM_001184880.2(PCDH19):c.1330A>G (p.Thr444Ala) rs201671718 0.00012
NM_001184880.2(PCDH19):c.942G>A (p.Leu314=) rs773740606 0.00010
NM_001184880.2(PCDH19):c.3262G>A (p.Ala1088Thr) rs370078729 0.00009
NM_001184880.2(PCDH19):c.3077C>T (p.Pro1026Leu) rs762888017 0.00005
NM_001184880.2(PCDH19):c.224A>G (p.Asn75Ser) rs796052790 0.00004
NM_001184880.2(PCDH19):c.3355G>A (p.Glu1119Lys) rs369647740 0.00004
NM_001184880.2(PCDH19):c.2798A>G (p.Asp933Gly) rs369379155 0.00002
NM_001184880.2(PCDH19):c.896C>T (p.Thr299Ile) rs866113078 0.00001
NM_001184880.2(PCDH19):c.1435G>A (p.Asp479Asn) rs1064794763
NM_001184880.2(PCDH19):c.1465T>C (p.Ser489Pro) rs1555985153
NM_001184880.2(PCDH19):c.1711G>C (p.Gly571Arg)
NM_001184880.2(PCDH19):c.1924G>A (p.Val642Met) rs1221643775
NM_001184880.2(PCDH19):c.199_207del (p.Ser67_Pro69del) rs796052840
NM_001184880.2(PCDH19):c.2694C>T (p.Asp898=) rs754570811
NM_001184880.2(PCDH19):c.3367C>T (p.His1123Tyr) rs2147445531
NM_001184880.2(PCDH19):c.3405A>G (p.Lys1135=) rs1555972516
NM_001184880.2(PCDH19):c.370G>C (p.Asp124His) rs796052797
NM_001184880.2(PCDH19):c.717C>G (p.Ser239Arg) rs199628956

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