List of variants in gene ANO5 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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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.172C>T (p.Arg58Trp)	rs201725369	0.00016
NM_213599.3(ANO5):c.242A>G (p.Asp81Gly)	rs199501657	0.00010
NM_213599.3(ANO5):c.1898+1G>A	rs142027093	0.00009
NM_213599.3(ANO5):c.41-1G>A	rs398124625	0.00006
NM_213599.3(ANO5):c.1213C>T (p.Gln405Ter)	rs368970223	0.00004
NM_213599.3(ANO5):c.2018A>G (p.Tyr673Cys)	rs137854527	0.00003
NM_213599.3(ANO5):c.1407+5G>A	rs281865464	0.00001
NM_213599.3(ANO5):c.1993_1996dup (p.Pro666fs)	rs780201679	0.00001
NM_213599.3(ANO5):c.2345C>G (p.Ser782Ter)	rs753138577	0.00001
NM_213599.3(ANO5):c.1520del (p.Phe507fs)	rs794727158
NM_213599.3(ANO5):c.1631-12_1631-2del	rs886043327
NM_213599.3(ANO5):c.191dup (p.Asn64fs)	rs137854521
NM_213599.3(ANO5):c.201_205del (p.Ser67fs)	rs794727745
NM_213599.3(ANO5):c.206_207del (p.Asp69fs)	rs1254796261
NM_213599.3(ANO5):c.2415-2A>C	rs1230152194
NM_213599.3(ANO5):c.258C>A (p.Tyr86Ter)	rs747146523
NM_213599.3(ANO5):c.970del (p.Cys324fs)

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