ClinVar Miner

List of variants in gene PCDH19 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 47
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HGVS dbSNP
NM_001184880.2(PCDH19):c.*8T>C rs145987305
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs) rs758946412
NM_001184880.2(PCDH19):c.1101del (p.Ile368fs) rs886044166
NM_001184880.2(PCDH19):c.1137C>T (p.Gly379=) rs56277715
NM_001184880.2(PCDH19):c.1209C>T (p.Ser403=) rs372006606
NM_001184880.2(PCDH19):c.1263_1264CA[1] (p.Thr422fs) rs886043572
NM_001184880.2(PCDH19):c.1294A>G (p.Met432Val) rs200728466
NM_001184880.2(PCDH19):c.1401G>T (p.Thr467=) rs794726896
NM_001184880.2(PCDH19):c.1434C>T (p.Arg478=) rs137962077
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=) rs1953337
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg) rs796052819
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=) rs192354176
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=) rs200471732
NM_001184880.2(PCDH19):c.228C>T (p.Pro76=) rs794726898
NM_001184880.2(PCDH19):c.2372G>A (p.Arg791Gln) rs886042264
NM_001184880.2(PCDH19):c.2469G>A (p.Leu823=) rs61744561
NM_001184880.2(PCDH19):c.2496C>T (p.Phe832=) rs774555485
NM_001184880.2(PCDH19):c.2522G>A (p.Arg841His) rs756818874
NM_001184880.2(PCDH19):c.2592T>A (p.Ile864=) rs1555984400
NM_001184880.2(PCDH19):c.2617-7A>G rs370859689
NM_001184880.2(PCDH19):c.271_273CTG[1] (p.Leu92del) rs727504068
NM_001184880.2(PCDH19):c.2721T>C (p.Ser907=) rs376946966
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=) rs193148631
NM_001184880.2(PCDH19):c.2938C>T (p.Arg980Cys) rs3764758
NM_001184880.2(PCDH19):c.2965A>C (p.Asn989His) rs201611496
NM_001184880.2(PCDH19):c.301A>G (p.Ile101Val) rs779017688
NM_001184880.2(PCDH19):c.3057G>A (p.Gly1019=) rs886043091
NM_001184880.2(PCDH19):c.3127A>T (p.Ile1043Phe) rs189342249
NM_001184880.2(PCDH19):c.3235C>G (p.Pro1079Ala) rs200854927
NM_001184880.2(PCDH19):c.3248A>G (p.Tyr1083Cys) rs1315498661
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001184880.2(PCDH19):c.3400A>C (p.Asn1134His) rs141816797
NM_001184880.2(PCDH19):c.374A>G (p.Asn125Ser) rs398123603
NM_001184880.2(PCDH19):c.402C>A (p.Ile134=) rs41300169
NM_001184880.2(PCDH19):c.406_408dup (p.Leu136dup) rs886043865
NM_001184880.2(PCDH19):c.479G>A (p.Ser160Asn) rs794726899
NM_001184880.2(PCDH19):c.531G>A (p.Glu177=) rs192122222
NM_001184880.2(PCDH19):c.539C>G (p.Thr180Arg) rs796052803
NM_001184880.2(PCDH19):c.545G>C (p.Gly182Ala) rs727504067
NM_001184880.2(PCDH19):c.559T>G (p.Phe187Val) rs764980282
NM_001184880.2(PCDH19):c.655C>T (p.Leu219=) rs377627937
NM_001184880.2(PCDH19):c.6G>A (p.Glu2=) rs184883626
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) rs201713027
NM_001184880.2(PCDH19):c.814C>T (p.Gln272Ter) rs794726897
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=) rs56307810
NM_001184880.2(PCDH19):c.841del (p.Val281fs) rs1569315381

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