List of variants in gene ANO5 reported as likely pathogenic for Gnathodiaphyseal dysplasia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_213599.3(ANO5):c.2395C>T (p.Arg799Ter)	rs762874007	0.00001
NM_213599.3(ANO5):c.1721A>G (p.Tyr574Cys)	rs2133747827
NM_213599.3(ANO5):c.2029+2dup	rs1057518855
NM_213599.3(ANO5):c.860_863dup (p.Leu289fs)	rs1590266513

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