List of variants in gene PDZD7 studied for Usher syndrome type 2A

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_001195263.2(PDZD7):c.1011C>T (p.Tyr337=)	rs34705415	0.00775
NM_001195263.2(PDZD7):c.2680T>C (p.Phe894Leu)	rs571203897	0.00035
NM_001195263.2(PDZD7):c.1629G>A (p.Gln543=)	rs192668758	0.00029
NM_001195263.2(PDZD7):c.562C>A (p.Arg188Ser)	rs368583838	0.00005
NM_001195263.2(PDZD7):c.878G>A (p.Arg293Gln)	rs368026275	0.00005
NM_001195263.2(PDZD7):c.257C>T (p.Ser86Leu)	rs761666704	0.00003
NM_001195263.2(PDZD7):c.1012del (p.Ser338fs)	rs1564634581
NM_001195263.2(PDZD7):c.166dup (p.Arg56fs)	rs587776894
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs)	rs397516633
NM_001195263.2(PDZD7):c.598G>A (p.Asp200Asn)	rs145910584

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