List of variants in gene PCDH15 studied for Rare genetic deafness

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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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.2419dup (p.Ile807fs)	rs781148814	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.16del (p.Tyr6fs)	rs397517451
NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter)	rs727504301
NM_001384140.1(PCDH15):c.1998-2A>G	rs397517452
NM_001384140.1(PCDH15):c.3441dup (p.Phe1148fs)	rs770832663
NM_001384140.1(PCDH15):c.400C>G (p.Arg134Gly)	rs137853003
NM_033056.3(PCDH15):c.(?_3374)_(3501_?)del

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