List of variants in gene ANO5 reported as uncertain significance by GeneDx

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.2141C>G (p.Thr714Ser)	rs200631556	0.00090
NM_213599.3(ANO5):c.294G>A (p.Ala98=)	rs142858990	0.00065
NM_213599.3(ANO5):c.1563G>T (p.Leu521Phe)	rs190937193	0.00041
NM_213599.3(ANO5):c.689A>G (p.Asp230Gly)	rs139259793	0.00025
NM_213599.3(ANO5):c.149G>A (p.Arg50Gln)	rs370084681	0.00021
NM_213599.3(ANO5):c.1747G>A (p.Val583Ile)	rs375225649	0.00018
NM_213599.3(ANO5):c.1036A>C (p.Ile346Leu)	rs146233625	0.00014
NM_213599.3(ANO5):c.1364G>A (p.Arg455His)	rs772899863	0.00011
NM_213599.3(ANO5):c.478C>T (p.Arg160Cys)	rs200531045	0.00010
NM_213599.3(ANO5):c.1924C>G (p.Arg642Gly)	rs146341538	0.00005
NM_213599.3(ANO5):c.443G>T (p.Gly148Val)	rs912120379	0.00004
NM_213599.3(ANO5):c.583C>T (p.Arg195Trp)	rs149040903	0.00004
NM_213599.3(ANO5):c.584G>A (p.Arg195Gln)	rs143078257	0.00004
NM_213599.3(ANO5):c.736T>C (p.Tyr246His)	rs1219063834	0.00003
NM_213599.3(ANO5):c.170G>A (p.Arg57Gln)	rs781702630	0.00002
NM_213599.3(ANO5):c.1921C>T (p.Arg641Cys)	rs372674175	0.00002
NM_213599.3(ANO5):c.2623A>C (p.Ile875Leu)	rs1131691364	0.00002
NM_213599.3(ANO5):c.845A>G (p.Tyr282Cys)	rs561417561	0.00002
NM_213599.3(ANO5):c.1630+5del	rs1064795273	0.00001
NM_213599.3(ANO5):c.2185G>A (p.Val729Ile)	rs778772732	0.00001
NM_213599.3(ANO5):c.454C>G (p.Pro152Ala)	rs995637790	0.00001
NM_213599.3(ANO5):c.632C>T (p.Ser211Leu)	rs142939381	0.00001
NM_213599.3(ANO5):c.650T>C (p.Val217Ala)	rs749876289	0.00001
NM_213599.3(ANO5):c.671G>C (p.Cys224Ser)	rs749915913	0.00001
NM_213599.3(ANO5):c.836G>A (p.Arg279Gln)	rs201329725	0.00001
NM_213599.3(ANO5):c.1081G>C (p.Asp361His)	rs1554929295
NM_213599.3(ANO5):c.11C>A (p.Pro4Gln)	rs376116831
NM_213599.3(ANO5):c.1631-4_1631-2del
NM_213599.3(ANO5):c.1832C>A (p.Thr611Lys)	rs2133750614
NM_213599.3(ANO5):c.1925G>T (p.Arg642Leu)	rs199532484
NM_213599.3(ANO5):c.1981C>T (p.Leu661Phe)	rs944857212
NM_213599.3(ANO5):c.2117G>T (p.Arg706Leu)
NM_213599.3(ANO5):c.2170G>A (p.Ala724Thr)
NM_213599.3(ANO5):c.2551G>T (p.Ala851Ser)	rs2133810704
NM_213599.3(ANO5):c.2639A>G (p.Glu880Gly)	rs1554935957
NM_213599.3(ANO5):c.265_267delinsTAC (p.Asp89Tyr)	rs2133588821
NM_213599.3(ANO5):c.2699T>A (p.Met900Lys)	rs1395263508
NM_213599.3(ANO5):c.373G>C (p.Asp125His)	rs1277829538
NM_213599.3(ANO5):c.385T>C (p.Tyr129His)	rs370952911
NM_213599.3(ANO5):c.598C>T (p.Leu200Phe)	rs1323200040
NM_213599.3(ANO5):c.679G>A (p.Gly227Ser)	rs867578091

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