ClinVar Miner

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

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_213599.3(ANO5):c.680G>C (p.Gly227Ala) rs140903276 0.00320
NM_213599.3(ANO5):c.259G>A (p.Val87Ile) rs34994927 0.00293
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser) rs143777403 0.00238
NM_213599.3(ANO5):c.2698A>C (p.Met900Leu) rs148293985 0.00169
NM_213599.3(ANO5):c.994A>G (p.Met332Val) rs200553437 0.00010
NM_213599.3(ANO5):c.1516A>G (p.Ser506Gly) rs141799673 0.00008
NM_213599.3(ANO5):c.2578G>C (p.Asp860His) rs145362994 0.00002
NM_213599.3(ANO5):c.2117G>A (p.Arg706Gln) rs926233739 0.00001
NM_213599.3(ANO5):c.1298T>C (p.Met433Thr) rs776413829
NM_213599.3(ANO5):c.1342C>T (p.Pro448Ser)
NM_213599.3(ANO5):c.1468A>G (p.Thr490Ala) rs375611559
NM_213599.3(ANO5):c.1597T>C (p.Tyr533His) rs1564942037
NM_213599.3(ANO5):c.1848_1849insTTTTGGAAC (p.Ile616_Ile617insPheTrpAsn) rs1590306764
NM_213599.3(ANO5):c.2237C>A (p.Ala746Asp) rs886042907
NM_213599.3(ANO5):c.2339G>A (p.Ser780Asn) rs1554934744
NM_213599.3(ANO5):c.2503_2505del (p.Phe835del) rs794727350
NM_213599.3(ANO5):c.710T>C (p.Ile237Thr) rs1590260083
NM_213599.3(ANO5):c.949G>A (p.Ala317Thr) rs1554929135

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