List of variants in gene PDZD7 reported as pathogenic for Usher syndrome type 2

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001195263.2(PDZD7):c.1012del (p.Ser338fs)	rs1564634581	0.00001
NM_001195263.2(PDZD7):c.166dup (p.Arg56fs)	rs587776894
NM_001195263.2(PDZD7):c.307G>C (p.Gly103Arg)	rs148695069

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