ClinVar Miner

List of variants in gene PCDH15 reported by GeneReviews

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Gene type:
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Total variants: 5
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HGVS dbSNP
NM_033056.4(PCDH15):c.158-1G>A rs876657418
NM_033056.4(PCDH15):c.16del (p.Tyr6fs) rs397517451
NM_033056.4(PCDH15):c.394dup (p.Glu132fs) rs397515566
NM_033056.4(PCDH15):c.5598_5600AAC[1] (p.Thr1869del) rs113363047
NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) rs111033260

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