List of variants in gene ANO5 reported as pathogenic by Eurofins NTD LLC (GA)

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: 41

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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.2498T>A (p.Met833Lys)	rs142073798	0.00014
NM_213599.3(ANO5):c.1960C>T (p.Arg654Ter)	rs1488095558	0.00013
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser)	rs137854526	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.1210C>T (p.Arg404Ter)	rs566415362	0.00004
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.2176dup (p.Ser726fs)	rs797044667	0.00003
NM_213599.3(ANO5):c.762+1G>A	rs372221490	0.00003
NM_213599.3(ANO5):c.1120-1G>A	rs561719071	0.00001
NM_213599.3(ANO5):c.1295C>G (p.Ala432Gly)	rs137854524	0.00001
NM_213599.3(ANO5):c.139-1del	rs868484837	0.00001
NM_213599.3(ANO5):c.1406G>A (p.Trp469Ter)	rs765427574	0.00001
NM_213599.3(ANO5):c.2345C>G (p.Ser782Ter)	rs753138577	0.00001
NM_213599.3(ANO5):c.2470del (p.Gln824fs)	rs770694933	0.00001
NM_213599.3(ANO5):c.69C>A (p.Tyr23Ter)	rs762035813	0.00001
NM_213599.3(ANO5):c.108_109del (p.Glu36fs)	rs886044020
NM_213599.3(ANO5):c.1207C>T (p.Gln403Ter)	rs1554930267
NM_213599.3(ANO5):c.1516del (p.Ser506fs)	rs1302414683
NM_213599.3(ANO5):c.1520del (p.Phe507fs)	rs794727158
NM_213599.3(ANO5):c.1627dup (p.Met543fs)	rs281865480
NM_213599.3(ANO5):c.1631-12_1631-2del	rs886043327
NM_213599.3(ANO5):c.1639C>T (p.Arg547Ter)	rs747719953
NM_213599.3(ANO5):c.1709C>G (p.Ser570Ter)	rs765262083
NM_213599.3(ANO5):c.1767C>A (p.Tyr589Ter)	rs188150039
NM_213599.3(ANO5):c.191dup (p.Asn64fs)	rs137854521
NM_213599.3(ANO5):c.1992dup (p.Gly665fs)	rs1554933716
NM_213599.3(ANO5):c.2004del (p.Leu669fs)	rs886043172
NM_213599.3(ANO5):c.201_205del (p.Ser67fs)	rs794727745
NM_213599.3(ANO5):c.2172_2178del (p.Ala724_His725insTer)	rs794727231
NM_213599.3(ANO5):c.2235+1G>A	rs886042442
NM_213599.3(ANO5):c.2446G>T (p.Glu816Ter)	rs145127621
NM_213599.3(ANO5):c.304_308del (p.Lys102fs)	rs776859202
NM_213599.3(ANO5):c.306del (p.Glu103fs)	rs1564922516
NM_213599.3(ANO5):c.835C>T (p.Arg279Ter)	rs1564930625
NM_213599.3(ANO5):c.889G>T (p.Gly297Ter)	rs886043074
NM_213599.3(ANO5):c.989dup (p.Leu330fs)	rs398124626

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