ClinVar Miner

List of variants in gene PCDH19 reported as pathogenic by GeneDx

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Gene type:
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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser) rs587784299 0.00001
GRCh37/hg19 Xq22.1(chrX:99551100-99606139)x1
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser) rs796052839
NM_001184880.2(PCDH19):c.1031C>T (p.Pro344Leu) rs796052811
NM_001184880.2(PCDH19):c.1059_1062del (p.Glu354fs) rs796052828
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs) rs758946412
NM_001184880.2(PCDH19):c.1098C>G (p.Tyr366Ter) rs1239794408
NM_001184880.2(PCDH19):c.1114C>T (p.Arg372Trp) rs796052812
NM_001184880.2(PCDH19):c.1133C>G (p.Ser378Ter) rs1555985301
NM_001184880.2(PCDH19):c.1134del (p.Gly379fs) rs796052830
NM_001184880.2(PCDH19):c.1288_1291del (p.Val430fs) rs1602636466
NM_001184880.2(PCDH19):c.1308del (p.Lys437fs) rs796052831
NM_001184880.2(PCDH19):c.132del (p.Asp45fs) rs1602638463
NM_001184880.2(PCDH19):c.1376del (p.Gln459fs) rs796052829
NM_001184880.2(PCDH19):c.1419_1422del (p.Ser474fs) rs1085307873
NM_001184880.2(PCDH19):c.1448del (p.Gly483fs) rs1602636059
NM_001184880.2(PCDH19):c.1521del (p.Ile508fs) rs1131691646
NM_001184880.2(PCDH19):c.1625C>G (p.Ser542Ter) rs796052817
NM_001184880.2(PCDH19):c.1683_1696del (p.Val562fs) rs796052832
NM_001184880.2(PCDH19):c.1752_1759del (p.Tyr585fs) rs796052833
NM_001184880.2(PCDH19):c.1855C>T (p.Gln619Ter) rs796052820
NM_001184880.2(PCDH19):c.1952dup (p.Leu652fs) rs796052834
NM_001184880.2(PCDH19):c.1956_1959del (p.Ser653fs) rs796052835
NM_001184880.2(PCDH19):c.1958_1959dup (p.Ala654fs) rs796052835
NM_001184880.2(PCDH19):c.2147+1G>A rs1555984947
NM_001184880.2(PCDH19):c.2147+2T>C rs1555984946
NM_001184880.2(PCDH19):c.218_219insG (p.Asp73fs) rs796052841
NM_001184880.2(PCDH19):c.2656C>T (p.Arg886Ter) rs756414485
NM_001184880.2(PCDH19):c.2849-2A>G rs886039728
NM_001184880.2(PCDH19):c.370G>C (p.Asp124His) rs796052797
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter) rs1569315876
NM_001184880.2(PCDH19):c.473C>G (p.Ser158Ter) rs796052801
NM_001184880.2(PCDH19):c.498C>A (p.Tyr166Ter) rs796052837
NM_001184880.2(PCDH19):c.498C>G (p.Tyr166Ter) rs796052837
NM_001184880.2(PCDH19):c.499G>T (p.Glu167Ter) rs1555985623
NM_001184880.2(PCDH19):c.49_62del (p.Thr17fs) rs1602638594
NM_001184880.2(PCDH19):c.524del (p.Gly175fs) rs796052826
NM_001184880.2(PCDH19):c.595G>T (p.Glu199Ter) rs1131691603
NM_001184880.2(PCDH19):c.619C>T (p.Arg207Ter) rs796052802
NM_001184880.2(PCDH19):c.646_655del (p.Pro216fs) rs886039707
NM_001184880.2(PCDH19):c.647del (p.Pro216fs) rs1602637517
NM_001184880.2(PCDH19):c.696T>A (p.Asn232Lys) rs796052807
NM_001184880.2(PCDH19):c.799G>T (p.Glu267Ter) rs1057524751
NM_001184880.2(PCDH19):c.805del (p.Thr269fs) rs796052827
NM_001184880.2(PCDH19):c.825C>A (p.Tyr275Ter) rs1057520761
NM_001184880.2(PCDH19):c.875_879dup (p.His294fs) rs1555985416
NM_001184880.2(PCDH19):c.91G>T (p.Glu31Ter) rs796052794
NM_001184880.2(PCDH19):c.955A>T (p.Lys319Ter) rs1569315186
NM_001184880.2(PCDH19):c.966dup (p.Pro323fs) rs796052842
NM_001184880.2(PCDH19):c.976_981delinsTTCCC (p.Ile326fs) rs1131691509

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