ClinVar Miner

List of variants in gene PCDH15 reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) rs111033260 0.00012
NM_001384140.1(PCDH15):c.1006C>T (p.Arg336Ter) rs370261904 0.00001
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.400C>T (p.Arg134Ter) rs137853003 0.00001
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter) rs137853001 0.00001
NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter) rs727504301
NM_001384140.1(PCDH15):c.1940C>G (p.Ser647Ter) rs137853004
NM_001384140.1(PCDH15):c.3717+1G>A rs748706627
NM_001384140.1(PCDH15):c.3717+1G>T rs748706627
NM_001384140.1(PCDH15):c.400C>G (p.Arg134Gly) rs137853003
NM_001384140.1(PCDH15):c.423_430dup (p.Ser144fs) rs2134714165

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