List of variants in gene ANO5 reported by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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.2272C>T (p.Arg758Cys)	rs137854529	0.00049
NM_213599.3(ANO5):c.749A>G (p.Tyr250Cys)	rs781734224	0.00006
NM_213599.3(ANO5):c.2521C>G (p.His841Asp)	rs781027702	0.00004
NM_213599.3(ANO5):c.2636T>C (p.Phe879Ser)	rs1459697236	0.00001
NM_213599.3(ANO5):c.1627dup (p.Met543fs)	rs281865480
NM_213599.3(ANO5):c.1630+2T>G	rs1590300702
NM_213599.3(ANO5):c.191dup (p.Asn64fs)	rs137854521
NM_213599.3(ANO5):c.2411G>C (p.Cys804Ser)	rs1233836740
NM_213599.3(ANO5):c.395A>T (p.Lys132Met)	rs1852872996
NM_213599.3(ANO5):c.649-2A>G	rs773736505

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