List of variants in gene combination LOC125467768, PCDH19 reported as pathogenic by GeneDx

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001184880.2(PCDH19):c.2261_2262del (p.Glu754fs)
NM_001184880.2(PCDH19):c.2341del (p.Ile781fs)	rs1060502175
NM_001184880.2(PCDH19):c.2384del (p.Glu795fs)	rs796052844
NM_001184880.2(PCDH19):c.2399del (p.Asn800fs)	rs796052836
NM_001184880.2(PCDH19):c.2575C>T (p.Gln859Ter)	rs2147532974

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