ClinVar Miner

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

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Total variants: 5
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HGVS dbSNP
NM_001142763.1(PCDH15):c.(?_-1)_(2235+1_2236-1)del
NM_001142763.1:c.-189197_c.610-5166del
NM_033056.4(PCDH15):c.2971C>T (p.Arg991Ter) rs754391973
NM_033056.4(PCDH15):c.5364_5373del (p.Pro1789fs) rs753690225
NM_033056.4(PCDH15):c.5565C>A (p.Ala1855=) rs111033445

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