List of variants in gene PCDH15 reported as likely benign by PreventionGenetics, part of Exact Sciences

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu)	rs114137983	0.00224
NM_001384140.1(PCDH15):c.1181A>G (p.Tyr394Cys)	rs148533341	0.00219
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.4891C>T (p.Leu1631=)	rs200155519	0.00138
NM_033056.4(PCDH15):c.5353T>C (p.Ser1785Pro)	rs144261647	0.00134
NM_001384140.1(PCDH15):c.2563C>T (p.Arg855Trp)	rs138010738	0.00121
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile)	rs111033463	0.00056
NM_001384140.1(PCDH15):c.4671+1046A>G	rs201855435	0.00049
NM_001384140.1(PCDH15):c.4203-8C>G	rs200840022	0.00031
NM_001384140.1(PCDH15):c.2223A>G (p.Ala741=)	rs201332784	0.00021
NM_001384140.1(PCDH15):c.4080G>A (p.Val1360=)	rs111033499	0.00021
NM_001384140.1(PCDH15):c.4671+1642T>C	rs182175548	0.00021
NM_033056.4(PCDH15):c.5557A>C (p.Met1853Leu)	rs145903555	0.00020
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu)	rs139668636	0.00013
NM_001384140.1(PCDH15):c.4644A>G (p.Glu1548=)	rs200796871	0.00011
NM_001384140.1(PCDH15):c.195T>C (p.Thr65=)	rs770371293	0.00007
NM_001384140.1(PCDH15):c.3807-6T>G	rs727504791	0.00006
NM_001384140.1(PCDH15):c.3010-7T>C	rs781753578	0.00001
NM_033056.4(PCDH15):c.4719G>A (p.Leu1573=)	rs529962978	0.00001
NM_033056.4(PCDH15):c.5334T>C (p.Cys1778=)	rs727503362	0.00001
NM_033056.4(PCDH15):c.5805G>T (p.Gly1935=)	rs727504069	0.00001
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His)	rs45483395
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu)	rs45483395
NM_001384140.1(PCDH15):c.4672-1601G>T
NM_001384140.1(PCDH15):c.5052G>A (p.Ala1684=)
NM_001384140.1(PCDH15):c.594+10T>G
NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del)	rs397517462
NM_033056.4(PCDH15):c.5278_5286del (p.Pro1760_Pro1762del)	rs373916538
NM_033056.4(PCDH15):c.5280_5342del (p.Ala1761_Pro1781del)	rs1554820012
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1])	rs397517465
NM_033056.4(PCDH15):c.5294_5302del (p.Leu1765_Pro1767del)	rs557936064

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