List of variants in gene ANO5 reported as likely pathogenic for Miyoshi muscular dystrophy 3

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)	rs137854523	0.00098
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)	rs137854529	0.00049
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_213599.2(ANO5):c.[155A>G];[191dupA]
NM_213599.3(ANO5):c.1418_1421delinsGGACGACACCAGTGACGA (p.Val473fs)
NM_213599.3(ANO5):c.2286C>G (p.Tyr762Ter)
NM_213599.3(ANO5):c.[1520del];[155A>G]

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