ClinVar Miner

List of variants in gene PCDH15 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 5
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HGVS dbSNP
NM_033056.4(PCDH15):c.1997+1G>A rs763797356
NM_033056.4(PCDH15):c.3717+2dup rs1248401224
NM_033056.4(PCDH15):c.4211+2T>G rs753832779
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs) rs774056663
NM_033056.4(PCDH15):c.706-3_717del rs769348776

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