ClinVar Miner

List of variants in gene ANO5 studied for Inborn genetic diseases

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_213599.3(ANO5):c.1364G>A (p.Arg455His) rs772899863 0.00011
NM_213599.3(ANO5):c.1430T>C (p.Met477Thr) rs149017832 0.00008
NM_213599.3(ANO5):c.803A>G (p.Asn268Ser) rs769560800 0.00004
NM_213599.3(ANO5):c.1387G>A (p.Gly463Arg) rs776193177 0.00003
NM_213599.3(ANO5):c.2039T>C (p.Phe680Ser) rs777640863 0.00003
NM_213599.3(ANO5):c.561T>A (p.Phe187Leu) rs754808979 0.00003
NM_213599.3(ANO5):c.788C>T (p.Pro263Leu) rs754281591 0.00003
NM_213599.3(ANO5):c.53A>G (p.Asn18Ser) rs1010958758 0.00002
NM_213599.3(ANO5):c.1203G>T (p.Trp401Cys) rs886042339 0.00001
NM_213599.3(ANO5):c.1110G>T (p.Leu370Phe)
NM_213599.3(ANO5):c.1147A>C (p.Thr383Pro)
NM_213599.3(ANO5):c.1420G>C (p.Val474Leu)
NM_213599.3(ANO5):c.1550C>A (p.Thr517Lys)
NM_213599.3(ANO5):c.1925G>A (p.Arg642Gln)
NM_213599.3(ANO5):c.1996C>A (p.Pro666Thr)
NM_213599.3(ANO5):c.2023G>A (p.Glu675Lys)
NM_213599.3(ANO5):c.221G>A (p.Arg74Gln)
NM_213599.3(ANO5):c.2237C>A (p.Ala746Asp) rs886042907
NM_213599.3(ANO5):c.2561T>A (p.Ile854Lys) rs1311724644
NM_213599.3(ANO5):c.2600G>T (p.Arg867Ile) rs1223713660
NM_213599.3(ANO5):c.296A>G (p.Glu99Gly) rs571318959
NM_213599.3(ANO5):c.317C>A (p.Thr106Asn)
NM_213599.3(ANO5):c.515C>G (p.Pro172Arg)
NM_213599.3(ANO5):c.57G>C (p.Lys19Asn)
NM_213599.3(ANO5):c.611A>G (p.Gln204Arg)
NM_213599.3(ANO5):c.722T>C (p.Leu241Pro)
NM_213599.3(ANO5):c.724A>G (p.Asn242Asp)
NM_213599.3(ANO5):c.740C>T (p.Ser247Leu)

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