ClinVar Miner

List of variants in gene PCDH19 reported as uncertain significance by Ambry Genetics

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Total variants: 10
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HGVS dbSNP
NM_001184880.2(PCDH19):c.1697C>A (p.Pro566Gln) rs1555985059
NM_001184880.2(PCDH19):c.172G>T (p.Ala58Ser)
NM_001184880.2(PCDH19):c.1748T>C (p.Ile583Thr) rs1569314377
NM_001184880.2(PCDH19):c.1864G>A (p.Gly622Ser) rs1569314284
NM_001184880.2(PCDH19):c.2234T>C (p.Ile745Thr)
NM_001184880.2(PCDH19):c.2558T>C (p.Phe853Ser)
NM_001184880.2(PCDH19):c.3157C>T (p.Arg1053Trp)
NM_001184880.2(PCDH19):c.3437T>C (p.Ile1146Thr)
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) rs201713027
NM_001184880.2(PCDH19):c.994G>C (p.Val332Leu) rs1396289338

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