List of variants in gene PCDH15 reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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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.3316C>T (p.Arg1106Ter)	rs202033121	0.00002
NM_001384140.1(PCDH15):c.1583T>A (p.Val528Asp)	rs267606932	0.00001
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter)	rs1057516342	0.00001
NM_001384140.1(PCDH15):c.3358C>T (p.Arg1120Ter)	rs773404494	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.1736dup (p.Tyr579Ter)	rs1264383341
NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter)	rs727504301
NM_001384140.1(PCDH15):c.3232+1G>A
NM_001384140.1(PCDH15):c.3441dup (p.Phe1148fs)	rs770832663
NM_001384140.1(PCDH15):c.3667_3668del (p.Ile1223fs)	rs2079481708
NM_001384140.1(PCDH15):c.423_430dup (p.Ser144fs)	rs2134714165

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