List of variants in gene ANO5 reported as likely pathogenic for Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L; Miyoshi muscular dystrophy 3

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile)	rs375014127	0.00015
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys)	rs142073798	0.00014
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser)	rs137854526	0.00010
NM_213599.3(ANO5):c.1103C>T (p.Thr368Met)	rs760792371	0.00004
NM_213599.3(ANO5):c.139-1del	rs868484837	0.00001
NM_213599.3(ANO5):c.1982T>C (p.Leu661Pro)	rs1472414854	0.00001
NM_213599.3(ANO5):c.2117G>A (p.Arg706Gln)	rs926233739	0.00001
NM_213599.3(ANO5):c.2004del (p.Leu669fs)	rs886043172
NM_213599.3(ANO5):c.2290_2293dup (p.Tyr765fs)
NM_213599.3(ANO5):c.648+5G>C	rs752512585
NM_213599.3(ANO5):c.846T>G (p.Tyr282Ter)
NM_213599.3(ANO5):c.[1520del];[155A>G]

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