ClinVar Miner

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

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Gene type:
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Total variants: 23
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HGVS dbSNP
NM_033056.3(PCDH15):c.*12411C>T rs145418788
NM_033056.3(PCDH15):c.1362C>T (p.Val454=) rs61735479
NM_033056.3(PCDH15):c.1702G>A (p.Ala568Thr) rs61730754
NM_033056.3(PCDH15):c.2424G>C (p.Lys808Asn) rs375855445
NM_033056.3(PCDH15):c.3374-16G>A rs139684809
NM_033056.3(PCDH15):c.3502-8C>T rs184144118
NM_033056.3(PCDH15):c.3532G>A (p.Val1178Ile) rs147835286
NM_033056.3(PCDH15):c.3717+8G>C rs200556301
NM_033056.3(PCDH15):c.3877C>A (p.Arg1293=) rs142034111
NM_033056.3(PCDH15):c.3936A>G (p.Ala1312=) rs398124433
NM_033056.3(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387
NM_033056.3(PCDH15):c.4080G>A (p.Val1360=) rs111033499
NM_033056.3(PCDH15):c.4314G>A (p.Pro1438=) rs535913178
NM_033056.3(PCDH15):c.4317G>A (p.Pro1439=) rs370470900
NM_033056.3(PCDH15):c.4884T>C (p.Thr1628=) rs16937781
NM_033056.3(PCDH15):c.5254_5256delCCT (p.Pro1752del) rs397517462
NM_033056.3(PCDH15):c.5278_5286delCCTGCTCCT (p.Pro1760_Pro1762del) rs373916538
NM_033056.3(PCDH15):c.5287_5292delGCTCCT (p.Ala1763_Pro1764del) rs397517465
NM_033056.3(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463
NM_033056.3(PCDH15):c.5414C>T (p.Pro1805Leu) rs114137983
NM_033056.3(PCDH15):c.5550C>A (p.Thr1850=) rs112097891
NM_033056.3(PCDH15):c.5565C>T (p.Ala1855=) rs111033445
NM_033056.3(PCDH15):c.5603C>T (p.Thr1868Met) rs191736346

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