List of variants in gene ANO5 reported as not provided for hereditary skeletal muscle disorder

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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.1295C>G (p.Ala432Gly)	rs137854524	0.00001
NM_213599.3(ANO5):c.1407+5G>A	rs281865464	0.00001
NM_213599.3(ANO5):c.1081G>C (p.Asp361His)	rs1554929295
NM_213599.3(ANO5):c.2004del (p.Leu669fs)	rs886043172
NM_213599.3(ANO5):c.2311_2312del (p.Gln771fs)	rs137854528
NM_213599.3(ANO5):c.304_308del (p.Lys102fs)	rs776859202
NM_213599.3(ANO5):c.989dup (p.Leu330fs)	rs398124626

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