ClinVar Miner

List of variants in gene PCDH15 reported as likely benign by Eurofins NTD LLC (GA)

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=) rs111033516 0.00401
NM_001384140.1(PCDH15):c.4860G>A (p.Thr1620=) rs148772706 0.00278
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu) rs114137983 0.00224
NM_001384140.1(PCDH15):c.343G>A (p.Val115Met) rs143570915 0.00209
NM_001384140.1(PCDH15):c.4671+1109C>T rs145418788 0.00208
NM_001384140.1(PCDH15):c.4801G>A (p.Gly1601Ser) rs181306086 0.00140
NM_001384140.1(PCDH15):c.2990A>G (p.Glu997Gly) rs139087859 0.00100
NM_033056.4(PCDH15):c.5278_5286del (p.Pro1760_Pro1762del) rs373916538

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