ClinVar Miner

List of variants in gene PCDH19 reported as uncertain significance for Inborn genetic diseases

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001184880.2(PCDH19):c.3437T>C (p.Ile1146Thr) rs186554435 0.00009
NM_001184880.2(PCDH19):c.172G>T (p.Ala58Ser) rs763745318 0.00005
NM_001184880.2(PCDH19):c.617T>G (p.Phe206Cys) rs746274631 0.00005
NM_001184880.2(PCDH19):c.3355G>A (p.Glu1119Lys) rs369647740 0.00004
NM_001184880.2(PCDH19):c.3157C>T (p.Arg1053Trp) rs774986147 0.00003
NM_001184880.2(PCDH19):c.539C>G (p.Thr180Arg) rs796052803 0.00003
NM_001184880.2(PCDH19):c.1226G>C (p.Gly409Ala) rs757952794 0.00002
NM_001184880.2(PCDH19):c.2872C>T (p.Arg958Trp) rs1309638639 0.00002
NM_001184880.2(PCDH19):c.994G>C (p.Val332Leu) rs1396289338 0.00002
NM_001184880.2(PCDH19):c.1164G>T (p.Leu388Phe) rs763059359 0.00001
NM_001184880.2(PCDH19):c.1417C>T (p.Leu473Phe) rs751977016 0.00001
NM_001184880.2(PCDH19):c.1648C>T (p.Arg550Trp) rs1431498920 0.00001
NM_001184880.2(PCDH19):c.3274C>T (p.Arg1092Cys) rs745989871 0.00001
NM_001184880.2(PCDH19):c.479G>A (p.Ser160Asn) rs794726899 0.00001
NM_001184880.2(PCDH19):c.559T>G (p.Phe187Val) rs764980282 0.00001
NM_001184880.2(PCDH19):c.1097A>G (p.Tyr366Cys) rs1928409253
NM_001184880.2(PCDH19):c.1342G>T (p.Asp448Tyr) rs1569314809
NM_001184880.2(PCDH19):c.1489G>T (p.Val497Leu)
NM_001184880.2(PCDH19):c.1693G>A (p.Ala565Thr) rs1316928806
NM_001184880.2(PCDH19):c.1739A>C (p.Asn580Thr)
NM_001184880.2(PCDH19):c.1748T>C (p.Ile583Thr) rs1569314377
NM_001184880.2(PCDH19):c.1768G>A (p.Val590Ile) rs2520978581
NM_001184880.2(PCDH19):c.1786G>A (p.Asp596Asn) rs1928365978
NM_001184880.2(PCDH19):c.1805G>A (p.Arg602Gln) rs775424574
NM_001184880.2(PCDH19):c.1864G>A (p.Gly622Ser) rs1569314284
NM_001184880.2(PCDH19):c.1870G>A (p.Val624Ile)
NM_001184880.2(PCDH19):c.1898G>A (p.Ser633Asn)
NM_001184880.2(PCDH19):c.2051C>T (p.Ala684Val)
NM_001184880.2(PCDH19):c.2113C>G (p.Arg705Gly) rs1928350631
NM_001184880.2(PCDH19):c.2114G>T (p.Arg705Leu)
NM_001184880.2(PCDH19):c.2135C>G (p.Thr712Ser) rs2520974877
NM_001184880.2(PCDH19):c.2206T>C (p.Cys736Arg) rs2520963474
NM_001184880.2(PCDH19):c.25CTG[5] (p.Leu12_Ala13insLeu) rs770510483
NM_001184880.2(PCDH19):c.2643C>G (p.Asn881Lys) rs1285138683
NM_001184880.2(PCDH19):c.2890C>A (p.Leu964Ile) rs2520449806
NM_001184880.2(PCDH19):c.3154A>G (p.Ile1052Val)
NM_001184880.2(PCDH19):c.340G>A (p.Val114Met) rs751708323
NM_001184880.2(PCDH19):c.431C>A (p.Pro144His) rs2520994653
NM_001184880.2(PCDH19):c.760A>G (p.Asn254Asp)
NM_001184880.2(PCDH19):c.788G>A (p.Ser263Asn) rs2520989838
NM_001184880.2(PCDH19):c.88G>A (p.Glu30Lys) rs931969825

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