List of variants in gene PCDH19 reported as likely pathogenic for amino acid metabolism disease

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_001184880.2(PCDH19):c.1123G>A (p.Asp375Asn)	rs1928407580
NM_001184880.2(PCDH19):c.1335C>A (p.Asp445Glu)	rs796052815
NM_001184880.2(PCDH19):c.1469A>C (p.Tyr490Ser)	rs1555985142
NM_001184880.2(PCDH19):c.1469A>G (p.Tyr490Cys)	rs1555985142
NM_001184880.2(PCDH19):c.1672G>C (p.Asp558His)	rs748611349
NM_001184880.2(PCDH19):c.1919T>G (p.Leu640Arg)	rs1928358562
NM_001184880.2(PCDH19):c.1960G>C (p.Ala654Pro)	rs1928356260
NM_001184880.2(PCDH19):c.602A>C (p.Gln201Pro)	rs1928446616
NM_001184880.2(PCDH19):c.779T>G (p.Leu260Arg)	rs1928431321
NM_001184880.2(PCDH19):c.799G>A (p.Glu267Lys)	rs1057524751

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