List of variants in gene PDZD7 reported as likely pathogenic for perceptual disorders

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_001195263.2(PDZD7):c.2211del (p.Gln737fs)	rs1157689930	0.00004
NM_001195263.2(PDZD7):c.1543C>T (p.Gln515Ter)	rs979094623	0.00003
NM_001195263.2(PDZD7):c.682G>A (p.Gly228Arg)	rs753034799	0.00001
NM_001195263.2(PDZD7):c.928+1G>A	rs778565403	0.00001
NM_001195263.2(PDZD7):c.1500C>A (p.Tyr500Ter)	rs953422571
NM_001195263.2(PDZD7):c.1750-2A>G
NM_001195263.2(PDZD7):c.1788_1801del (p.Leu597fs)
NM_001195263.2(PDZD7):c.2089del (p.Ala697fs)	rs1055318738
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs)	rs397516633
NM_001195263.2(PDZD7):c.2368_2377del (p.Lys790fs)
NM_001195263.2(PDZD7):c.2672AGA[1] (p.Lys892del)	rs397516636
NM_001195263.2(PDZD7):c.307G>C (p.Gly103Arg)	rs148695069
NM_001195263.2(PDZD7):c.490C>T (p.Arg164Trp)	rs200664140
NM_001195263.2(PDZD7):c.854T>G (p.Met285Arg)	rs1554835827

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