ClinVar Miner

List of variants in gene PCDH19 reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 36
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HGVS dbSNP
NM_001184880.2(PCDH19):c.1004G>A (p.Ser335Asn) rs796052810
NM_001184880.2(PCDH19):c.1079A>C (p.Glu360Ala) rs1555985327
NM_001184880.2(PCDH19):c.1164G>T (p.Leu388Phe) rs763059359
NM_001184880.2(PCDH19):c.1241A>T (p.Glu414Val) rs796052814
NM_001184880.2(PCDH19):c.1382T>C (p.Ile461Thr) rs778219829
NM_001184880.2(PCDH19):c.1384G>A (p.Val462Met) rs200637767
NM_001184880.2(PCDH19):c.1447G>A (p.Gly483Ser) rs776683765
NM_001184880.2(PCDH19):c.1465T>C (p.Ser489Pro) rs1555985153
NM_001184880.2(PCDH19):c.1477G>A (p.Val493Met) rs773087045
NM_001184880.2(PCDH19):c.1820T>C (p.Met607Thr) rs796052821
NM_001184880.2(PCDH19):c.199_207del (p.Ser67_Pro69del) rs796052840
NM_001184880.2(PCDH19):c.224A>G (p.Asn75Ser) rs796052790
NM_001184880.2(PCDH19):c.2289-11C>G rs777190334
NM_001184880.2(PCDH19):c.2319G>T (p.Lys773Asn) rs765066118
NM_001184880.2(PCDH19):c.2522G>A (p.Arg841His) rs756818874
NM_001184880.2(PCDH19):c.2564G>A (p.Ser855Asn) rs796052824
NM_001184880.2(PCDH19):c.2668A>G (p.Ile890Val) rs778668005
NM_001184880.2(PCDH19):c.2687T>C (p.Phe896Ser) rs796052823
NM_001184880.2(PCDH19):c.2836A>G (p.Met946Val) rs1064793304
NM_001184880.2(PCDH19):c.2884C>T (p.Arg962Trp) rs779085409
NM_001184880.2(PCDH19):c.298A>T (p.Ile100Phe) rs796052838
NM_001184880.2(PCDH19):c.301A>G (p.Ile101Val) rs779017688
NM_001184880.2(PCDH19):c.3079G>A (p.Ala1027Thr) rs201509171
NM_001184880.2(PCDH19):c.3095C>T (p.Thr1032Ile) rs796052793
NM_001184880.2(PCDH19):c.3262G>A (p.Ala1088Thr) rs370078729
NM_001184880.2(PCDH19):c.3352A>G (p.Ser1118Gly) rs1057520343
NM_001184880.2(PCDH19):c.3398G>A (p.Arg1133His) rs771849535
NM_001184880.2(PCDH19):c.416C>T (p.Ser139Leu) rs1555985687
NM_001184880.2(PCDH19):c.463G>A (p.Asp155Asn) rs796052800
NM_001184880.2(PCDH19):c.570_572dup (p.Val192dup) rs1555985576
NM_001184880.2(PCDH19):c.623T>A (p.Ile208Asn) rs796052804
NM_001184880.2(PCDH19):c.625A>C (p.Thr209Pro) rs796052805
NM_001184880.2(PCDH19):c.718G>C (p.Glu240Gln) rs796052808
NM_001184880.2(PCDH19):c.750C>G (p.Asn250Lys) rs796052809
NM_001184880.2(PCDH19):c.785C>A (p.Ala262Asp) rs1555985448
NM_001184880.2(PCDH19):c.899T>C (p.Val300Ala) rs1555985398

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