ClinVar Miner

List of variants in gene PCDH15 reported as uncertain significance by GeneDx

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Total variants: 15
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HGVS dbSNP
NM_001142771.2(PCDH15):c.4497+1046A>G rs201855435
NM_001142771.2(PCDH15):c.4497+1449_4497+1457dup rs752753497
NM_001142771.2(PCDH15):c.4627G>A (p.Gly1543Ser) rs181306086
NM_033056.4(PCDH15):c.1427C>T (p.Thr476Ile) rs967946862
NM_033056.4(PCDH15):c.19C>A (p.Leu7Ile) rs762092314
NM_033056.4(PCDH15):c.2192A>C (p.Glu731Ala) rs749438162
NM_033056.4(PCDH15):c.2563C>T (p.Arg855Trp) rs138010738
NM_033056.4(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_033056.4(PCDH15):c.2897G>C (p.Arg966Thr) rs568865061
NM_033056.4(PCDH15):c.3964G>C (p.Asp1322His) rs1411262816
NM_033056.4(PCDH15):c.4316C>T (p.Pro1439Leu) rs374714898
NM_033056.4(PCDH15):c.4831_4834dup (p.Thr1612fs) rs545191822
NM_033056.4(PCDH15):c.5280_5342del (p.Ala1761_Pro1781del) rs1554820012
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu) rs139668636
NM_033056.4(PCDH15):c.949T>A (p.Ser317Thr) rs140736502

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