ClinVar Miner

List of variants in gene PCDH15 reported as pathogenic by OMIM

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Total variants: 10
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NM_033056.4(PCDH15):c.1088del (p.Leu363fs) rs199469706
NM_033056.4(PCDH15):c.1583T>A (p.Val528Asp) rs267606932
NM_033056.4(PCDH15):c.16del (p.Tyr6fs) rs397517451
NM_033056.4(PCDH15):c.1940C>G (p.Ser647Ter) rs137853004
NM_033056.4(PCDH15):c.400C>G (p.Arg134Gly) rs137853003
NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) rs111033260
NM_033056.4(PCDH15):c.785G>A (p.Gly262Asp) rs137853002
NM_033056.4(PCDH15):c.7C>T (p.Arg3Ter) rs137853001
PCDH15, 3-BP DEL, 5601AAC
PCDH15, IVS27, A-G, -2

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