ClinVar Miner

List of variants in gene PCDH15 reported as likely benign for Usher syndrome, type 1F

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Total variants: 11
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HGVS dbSNP
NM_033056.3(PCDH15):c.158-16930T>C rs207470941
NM_033056.3(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363
NM_033056.3(PCDH15):c.3501+13A>G rs727503365
NM_033056.3(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387
NM_033056.3(PCDH15):c.4368-76C>T rs375657329
NM_033056.3(PCDH15):c.4368-77G>A rs776152870
NM_033056.3(PCDH15):c.4368-77delG rs1554821197
NM_033056.3(PCDH15):c.4368-79_4368-76delGAGC rs1554821194
NM_033056.3(PCDH15):c.5278_5286delCCTGCTCCT (p.Pro1760_Pro1762del) rs373916538
NM_033056.3(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390
NM_033056.3(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463

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