ClinVar Miner

List of variants in gene PCDH15 studied for Retinitis pigmentosa-deafness syndrome

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Total variants: 8
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NM_001384140.1(PCDH15):c.1220C>T (p.Ser407Phe) rs886047067
NM_001384140.1(PCDH15):c.3502-10del rs750835578
NM_001384140.1(PCDH15):c.4368-1360_4368-1359del rs886047056
NM_001384140.1(PCDH15):c.4368-1481_4368-1478dup rs886047057
NM_001384140.1(PCDH15):c.4368-1501dup rs548021914
NM_001384140.1(PCDH15):c.4368-2209_4368-2204del rs397517465
NM_001384140.1(PCDH15):c.4368-2251CCT[3] rs397517462
NM_001384140.1(PCDH15):c.706-17_706-14del rs886047068

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