List of variants in gene ANO5 studied for ANO5-Related Disorders

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_213599.3(ANO5):c.267T>C (p.Asp89=)	rs4312063	0.83210
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)	rs137854523	0.00098
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys)	rs142073798	0.00014
NM_213599.3(ANO5):c.1640G>A (p.Arg547Gln)	rs139618850	0.00009
NM_213599.3(ANO5):c.2521C>G (p.His841Asp)	rs781027702	0.00004
NM_213599.3(ANO5):c.2176dup (p.Ser726fs)	rs797044667	0.00003
NM_213599.3(ANO5):c.1391C>A (p.Ala464Asp)	rs529961953	0.00001
GRCh37/hg19 11p14.3(chr11:22239792-22242756)x1
NM_213599.3(ANO5):c.180+2T>C	rs1564918396
NM_213599.3(ANO5):c.191dup (p.Asn64fs)	rs137854521

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