ClinVar Miner

List of variants in gene PCDH15 reported as benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001384140.1(PCDH15):c.1138G>A (p.Gly380Ser) rs10825269 0.22813
NM_001384140.1(PCDH15):c.1304A>C (p.Asp435Ala) rs4935502 0.15952
NM_001384140.1(PCDH15):c.5124G>A (p.Lys1708=) rs74609306 0.02014
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390 0.01583
NM_001384140.1(PCDH15):c.3532G>A (p.Val1178Ile) rs147835286 0.00845
NM_001384140.1(PCDH15):c.4672-1637G>A rs139441645 0.00746
NM_001384140.1(PCDH15):c.1702G>A (p.Ala568Thr) rs61730754 0.00615
NM_001384140.1(PCDH15):c.3983+12T>C rs149867749 0.00483
NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met) rs191736346 0.00423
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363 0.00325
NM_033056.4(PCDH15):c.5286T>A (p.Pro1762=) rs58461416 0.00220
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445 0.00168
NM_001384140.1(PCDH15):c.3451G>A (p.Gly1151Arg) rs149478475 0.00039
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del) rs113363047

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