ClinVar Miner

List of variants in gene PCDH19 reported by Génétique des Maladies du Développement, Hospices Civils de Lyon

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Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001184880.2(PCDH19):c.1081_1094del (p.Ser361fs) rs1928409516
NM_001184880.2(PCDH19):c.1206del (p.Ser403fs)
NM_001184880.2(PCDH19):c.1240G>T (p.Glu414Ter)
NM_001184880.2(PCDH19):c.139C>T (p.Arg47Ter)
NM_001184880.2(PCDH19):c.1919T>C (p.Leu640Pro) rs1928358562
NM_001184880.2(PCDH19):c.2675+2dup rs1926541478
NM_001184880.2(PCDH19):c.3070_3073dup (p.His1025fs) rs1924619294
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter) rs1569315876
NM_001184880.2(PCDH19):c.463G>C (p.Asp155His) rs796052800
NM_001184880.2(PCDH19):c.600_603dup (p.Ser202fs) rs2147541270
NM_001184880.2(PCDH19):c.745del (p.Glu249fs)
NM_001184880.2(PCDH19):c.971del (p.Asn324fs)

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