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Gene: ANO5 & Disease: Myopathy, 11 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2164	ANO5	c.191dup	p.Asn64fs (p.N64fs)	NM_213599.3 M	Dup	P	9 +	24
	ANO5	c.191dupA	--	NM_213599.3 M	Dup	P	9 +	24
	ANO5	c.188dup	p.Asn63fs (p.N63fs)	NM_001142649.2	Dup	P	9 +	24
286450	ANO5	c.1664G>T	p.Ser555Ile (p.S555I)	NM_213599.3 M	SNV	P	7 +	7
286450	ANO5	c.1661G>T	p.Ser554Ile (p.S554I)	NM_001142649.2	SNV	P	7 +	7
374043	ANO5	c.2029+2dup	--	NM_213599.3 M	Dup	LP	2 +	1
689569	ANO5	c.1362G>A	p.Thr454= (p.T454=)	NM_213599.3 M	SNV	LB	4 +	1
374043	ANO5	c.2026+2dup	--	NM_001142649.2	Dup	LP	2 +	1
689569	ANO5	c.1359G>A	p.Thr453= (p.T453=)	NM_001142649.2	SNV	LB	4 +	1
689560	ANO5	c.2030-3_2030-2dup	--	NM_213599.3 M	Dup	LB	4 +	0
689560	ANO5	c.2027-3_2027-2dup	--	NM_001142649.2	Dup	LB	4 +	0

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