ClinVar Miner

List of variants in gene PCDH15 reported as likely benign by Counsyl

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Gene type:
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390 0.01583
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387 0.00699
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363 0.00325
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463 0.00056
NM_001384140.1(PCDH15):c.4368-3204C>T rs375657329 0.00002
NM_001384140.1(PCDH15):c.3501+13A>G rs727503365 0.00001
NM_001384140.1(PCDH15):c.4368-3207_4368-3204del rs1554821194 0.00001
NM_001384140.1(PCDH15):c.158-16930T>C rs207470941
NM_001384140.1(PCDH15):c.4368-3205G>A rs776152870
NM_001384140.1(PCDH15):c.4368-3205del rs1554821197
NM_033056.4(PCDH15):c.5278_5286del (p.Pro1760_Pro1762del) rs373916538

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