List of variants in gene PCDH19 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser)	rs796052839
NM_001184880.2(PCDH19):c.1031C>T (p.Pro344Leu)	rs796052811
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs)	rs758946412
NM_001184880.2(PCDH19):c.1183C>T (p.Arg395Ter)	rs769967221
NM_001184880.2(PCDH19):c.1505_1554del (p.Val502fs)	rs1928379522
NM_001184880.2(PCDH19):c.200C>A (p.Ser67Ter)	rs868762744
NM_001184880.2(PCDH19):c.2147+1G>A	rs1555984947
NM_001184880.2(PCDH19):c.593G>T (p.Arg198Leu)	rs772837341
NM_001184880.2(PCDH19):c.706C>T (p.Pro236Ser)	rs1928437614
NM_001184880.2(PCDH19):c.81C>G (p.Tyr27Ter)	rs56307810
NM_001184880.2(PCDH19):c.966dup (p.Pro323fs)	rs796052842

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