ClinVar Miner

List of variants in gene PCDH19 reported as likely benign by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 8
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HGVS dbSNP
NM_001105243.1(PCDH19):c.1725C>T (p.Val575=) rs200471732
NM_001105243.1(PCDH19):c.2797C>T (p.Arg933Cys) rs3764758
NM_001105243.1(PCDH19):c.531G>A (p.Glu177=) rs192122222
NM_001105243.1(PCDH19):c.6G>A (p.Glu2=) rs184883626
NM_001184880.1(PCDH19):c.1107C>T (p.Ala369=) rs199879056
NM_001184880.1(PCDH19):c.2430C>T (p.Ser810=) rs751223449
NM_001184880.1(PCDH19):c.513C>T (p.Asn171=) rs749602848
NM_001184880.1(PCDH19):c.81C>T (p.Tyr27=) rs56307810

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