ClinVar Miner

List of variants in gene PCDH15 reported as likely pathogenic by Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals

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Total variants: 3
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HGVS dbSNP
NM_001142763.1(PCDH15):c.(?_-1)_(2235+1_2236-1)del
NM_001142763.1(PCDH15):c.5385_5394delTCCTCTTCCT (p.Pro1796Leufs) rs753690225
NM_001142763.1:c.-189197_c.610-5166del

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