ClinVar Miner

List of variants in gene PCDH19 reported as likely pathogenic by GeneDx

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Gene type:
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Total variants: 32
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HGVS dbSNP
NM_001105243.1(PCDH19):c.790G>T (p.Asp264Tyr) rs587784300
NM_001184880.1(PCDH19):c.1019A>C (p.Asn340Thr) rs796052839
NM_001184880.1(PCDH19):c.128C>T (p.Ala43Val) rs1064795511
NM_001184880.1(PCDH19):c.1335C>A (p.Asp445Glu) rs796052815
NM_001184880.1(PCDH19):c.1351C>T (p.Pro451Ser) rs796052816
NM_001184880.1(PCDH19):c.1372T>C (p.Tyr458His) rs1064794762
NM_001184880.1(PCDH19):c.1435G>A (p.Asp479Asn) rs1064794763
NM_001184880.1(PCDH19):c.1469A>C (p.Tyr490Ser) rs1555985142
NM_001184880.1(PCDH19):c.1478_1485delTGCCGTCG (p.Val493Alafs) rs1131692002
NM_001184880.1(PCDH19):c.1700C>T (p.Pro567Leu) rs201989363
NM_001184880.1(PCDH19):c.1873A>G (p.Arg625Gly) rs796052822
NM_001184880.1(PCDH19):c.21_39del19 (p.Val8Tyrfs) rs1555985864
NM_001184880.1(PCDH19):c.2501dupA (p.Asn834Lysfs) rs1555984437
NM_001184880.1(PCDH19):c.2676-1_2683delGCAGCTCCA rs1064794781
NM_001184880.1(PCDH19):c.295T>A (p.Cys99Ser) rs1064795237
NM_001184880.1(PCDH19):c.301_303delATC (p.Ile101del) rs796052825
NM_001184880.1(PCDH19):c.311dup (p.Val105Glyfs) rs1555985745
NM_001184880.1(PCDH19):c.361G>A (p.Asp121Asn) rs796052795
NM_001184880.1(PCDH19):c.361G>C (p.Asp121His) rs796052795
NM_001184880.1(PCDH19):c.369C>A (p.Asn123Lys) rs796052796
NM_001184880.1(PCDH19):c.369C>G (p.Asn123Lys) rs796052796
NM_001184880.1(PCDH19):c.370G>T (p.Asp124Tyr) rs796052797
NM_001184880.1(PCDH19):c.409G>T (p.Glu137Ter) rs1555985689
NM_001184880.1(PCDH19):c.424G>C (p.Ala142Pro) rs796052798
NM_001184880.1(PCDH19):c.437C>G (p.Thr146Arg) rs796052799
NM_001184880.1(PCDH19):c.593G>T (p.Arg198Leu) rs772837341
NM_001184880.1(PCDH19):c.634G>C (p.Asp212His) rs796052806
NM_001184880.1(PCDH19):c.697G>T (p.Asp233Tyr) rs1555985482
NM_001184880.1(PCDH19):c.701A>G (p.Asn234Ser) rs1555985475
NM_001184880.1(PCDH19):c.707C>G (p.Pro236Arg) rs1060502176
NM_001184880.1(PCDH19):c.878dup (p.His294Alafs) rs1131691362
NM_001184880.1(PCDH19):c.92A>T (p.Glu31Val) rs1064795834

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