ClinVar Miner

List of variants in gene PCDH15 reported as pathogenic by Baylor Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) rs111033260 0.00012
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121 0.00002
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter) rs1057516342 0.00001
NM_001384140.1(PCDH15):c.2971C>T (p.Arg991Ter) rs754391973 0.00001
NM_001384140.1(PCDH15):c.3358C>T (p.Arg1120Ter) rs773404494 0.00001
NM_001384140.1(PCDH15):c.3373+1G>A rs2085799827 0.00001
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter) rs137853003 0.00001
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter) rs137853001 0.00001
NM_001384140.1(PCDH15):c.1088del (p.Leu363fs) rs199469706
NM_001384140.1(PCDH15):c.158-1G>A rs876657418
NM_001384140.1(PCDH15):c.1737C>A (p.Tyr579Ter)
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter) rs1057517251
NM_001384140.1(PCDH15):c.17dup (p.Tyr6Ter)
NM_001384140.1(PCDH15):c.1830_1833del (p.Asn610fs) rs1057517261
NM_001384140.1(PCDH15):c.1863_1864dup (p.Ser622fs)
NM_001384140.1(PCDH15):c.1998-2A>G rs397517452
NM_001384140.1(PCDH15):c.2630T>A (p.Leu877Ter) rs2092876200
NM_001384140.1(PCDH15):c.2645_2646del (p.Asp881_Tyr882insTer) rs1589950125
NM_001384140.1(PCDH15):c.2782A>T (p.Lys928Ter)
NM_001384140.1(PCDH15):c.3441dup (p.Phe1148fs) rs770832663
NM_001384140.1(PCDH15):c.3661C>T (p.Gln1221Ter) rs1589156388
NM_001384140.1(PCDH15):c.3717+1G>A rs748706627
NM_001384140.1(PCDH15):c.3717+1G>T rs748706627
NM_001384140.1(PCDH15):c.3791_3794del (p.Ile1264fs) rs1554833249
NM_001384140.1(PCDH15):c.423_430dup (p.Ser144fs) rs2134714165
NM_001384140.1(PCDH15):c.60_61del (p.Leu20_Phe21insTer) rs2135421905

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.