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: 78
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HGVS dbSNP gnomAD frequency
NM_001184880.2(PCDH19):c.224A>G (p.Asn75Ser) rs796052790 0.00004
NM_001184880.2(PCDH19):c.886G>A (p.Gly296Ser) rs373336253 0.00004
NM_001184880.2(PCDH19):c.1447G>A (p.Gly483Ser) rs776683765 0.00003
NM_001184880.2(PCDH19):c.77A>T (p.Lys26Met) rs755403368 0.00003
NM_001184880.2(PCDH19):c.2687T>C (p.Phe896Ser) rs796052823 0.00002
NM_001184880.2(PCDH19):c.2884C>T (p.Arg962Trp) rs779085409 0.00002
NM_001184880.2(PCDH19):c.851G>A (p.Arg284His) rs749526030 0.00002
NM_001184880.2(PCDH19):c.1164G>T (p.Leu388Phe) rs763059359 0.00001
NM_001184880.2(PCDH19):c.1177C>T (p.Pro393Ser) rs775774922 0.00001
NM_001184880.2(PCDH19):c.1382T>C (p.Ile461Thr) rs778219829 0.00001
NM_001184880.2(PCDH19):c.1477G>A (p.Val493Met) rs773087045 0.00001
NM_001184880.2(PCDH19):c.298A>T (p.Ile100Phe) rs796052838 0.00001
NM_001184880.2(PCDH19):c.3079G>A (p.Ala1027Thr) rs201509171 0.00001
NM_001184880.2(PCDH19):c.3095C>T (p.Thr1032Ile) rs796052793 0.00001
NM_001184880.2(PCDH19):c.3352A>G (p.Ser1118Gly) rs1057520343 0.00001
NM_001184880.2(PCDH19):c.3398G>A (p.Arg1133His) rs771849535 0.00001
NM_001184880.2(PCDH19):c.718G>C (p.Glu240Gln) rs796052808 0.00001
NM_001184880.2(PCDH19):c.1004G>A (p.Ser335Asn) rs796052810
NM_001184880.2(PCDH19):c.106G>A (p.Gly36Arg)
NM_001184880.2(PCDH19):c.1079A>C (p.Glu360Ala) rs1555985327
NM_001184880.2(PCDH19):c.1090C>G (p.Pro364Ala)
NM_001184880.2(PCDH19):c.1105G>C (p.Ala369Pro) rs1602636688
NM_001184880.2(PCDH19):c.1124A>G (p.Asp375Gly)
NM_001184880.2(PCDH19):c.1157G>T (p.Cys386Phe) rs2147539484
NM_001184880.2(PCDH19):c.1159C>G (p.Arg387Gly)
NM_001184880.2(PCDH19):c.1228C>G (p.Arg410Gly)
NM_001184880.2(PCDH19):c.1232T>A (p.Leu411Gln)
NM_001184880.2(PCDH19):c.1237C>T (p.Arg413Cys)
NM_001184880.2(PCDH19):c.1241A>T (p.Glu414Val) rs796052814
NM_001184880.2(PCDH19):c.1249G>T (p.Asp417Tyr)
NM_001184880.2(PCDH19):c.124G>A (p.Val42Met) rs767840869
NM_001184880.2(PCDH19):c.1276C>T (p.Arg426Cys) rs1928399359
NM_001184880.2(PCDH19):c.1288G>A (p.Val430Met)
NM_001184880.2(PCDH19):c.1340A>C (p.Asn447Thr)
NM_001184880.2(PCDH19):c.1418T>A (p.Leu473His) rs764454230
NM_001184880.2(PCDH19):c.1465T>C (p.Ser489Pro) rs1555985153
NM_001184880.2(PCDH19):c.1501C>T (p.Pro501Ser) rs2147538596
NM_001184880.2(PCDH19):c.1507T>G (p.Phe503Val) rs2147538585
NM_001184880.2(PCDH19):c.154G>C (p.Ala52Pro)
NM_001184880.2(PCDH19):c.1816G>A (p.Asp606Asn) rs1928364873
NM_001184880.2(PCDH19):c.1817A>G (p.Asp606Gly) rs2147537779
NM_001184880.2(PCDH19):c.1820T>C (p.Met607Thr) rs796052821
NM_001184880.2(PCDH19):c.1861A>G (p.Asn621Asp)
NM_001184880.2(PCDH19):c.1918C>G (p.Leu640Val) rs2147537509
NM_001184880.2(PCDH19):c.194C>T (p.Ser65Phe) rs769833284
NM_001184880.2(PCDH19):c.199_207del (p.Ser67_Pro69del) rs796052840
NM_001184880.2(PCDH19):c.2078T>C (p.Phe693Ser) rs2147537187
NM_001184880.2(PCDH19):c.2136C>T (p.Thr712=) rs950694232
NM_001184880.2(PCDH19):c.2213A>T (p.His738Leu)
NM_001184880.2(PCDH19):c.2684C>T (p.Thr895Ile) rs2147485135
NM_001184880.2(PCDH19):c.2714A>G (p.Lys905Arg)
NM_001184880.2(PCDH19):c.2752G>A (p.Glu918Lys) rs2147485060
NM_001184880.2(PCDH19):c.2836A>G (p.Met946Val) rs1064793304
NM_001184880.2(PCDH19):c.2867A>G (p.His956Arg)
NM_001184880.2(PCDH19):c.301A>G (p.Ile101Val) rs779017688
NM_001184880.2(PCDH19):c.3219C>A (p.Ser1073Arg) rs1465124871
NM_001184880.2(PCDH19):c.3241G>C (p.Val1081Leu) rs774791898
NM_001184880.2(PCDH19):c.335T>A (p.Ile112Asn) rs2147542128
NM_001184880.2(PCDH19):c.3404_3405del (p.Lys1135fs) rs999749949
NM_001184880.2(PCDH19):c.3421A>G (p.Lys1141Glu) rs1456843420
NM_001184880.2(PCDH19):c.3431A>G (p.Lys1144Arg) rs2147445397
NM_001184880.2(PCDH19):c.3432G>C (p.Lys1144Asn)
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.513C>G (p.Asn171Lys) rs749602848
NM_001184880.2(PCDH19):c.570_572dup (p.Val192dup) rs1555985576
NM_001184880.2(PCDH19):c.596A>G (p.Glu199Gly)
NM_001184880.2(PCDH19):c.59C>T (p.Ala20Val)
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.750C>G (p.Asn250Lys) rs796052809
NM_001184880.2(PCDH19):c.77A>C (p.Lys26Thr) rs755403368
NM_001184880.2(PCDH19):c.785C>A (p.Ala262Asp) rs1555985448
NM_001184880.2(PCDH19):c.790G>T (p.Asp264Tyr) rs587784300
NM_001184880.2(PCDH19):c.824A>C (p.Tyr275Ser) rs1928426496
NM_001184880.2(PCDH19):c.899T>C (p.Val300Ala) rs1555985398
NM_001184880.2(PCDH19):c.97C>A (p.Gln33Lys)
NM_001184880.2(PCDH19):c.997_999dup (p.Thr333dup) rs2147540004

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