List of variants in gene PDZD7 reported as uncertain significance for Hearing loss, autosomal recessive 57

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_001195263.2(PDZD7):c.1013G>T (p.Ser338Ile)	rs1425787315	0.00001
NM_001195263.2(PDZD7):c.1525G>C (p.Gly509Arg)	rs1590053918
NM_001195263.2(PDZD7):c.197G>T (p.Arg66Leu)	rs1426679303
NM_001195263.2(PDZD7):c.2005+6_2005+9del
NM_001195263.2(PDZD7):c.2353A>C (p.Ser785Arg)	rs1852358426
NM_001195263.2(PDZD7):c.2850del (p.Ser953fs)	rs1025144704
NM_001195263.2(PDZD7):c.287G>T (p.Arg96Met)	rs758884514
NM_001195263.2(PDZD7):c.680G>A (p.Arg227His)	rs200730376
NM_001195263.2(PDZD7):c.806T>G (p.Ile269Ser)
NM_001195263.2(PDZD7):c.881A>G (p.Tyr294Cys)

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