ClinVar Miner

List of variants in gene ANO5 reported as uncertain significance by Athena Diagnostics Inc

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser) rs143777403 0.00238
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.553G>C (p.Glu185Gln) rs140381407 0.00018
NM_213599.3(ANO5):c.994A>G (p.Met332Val) rs200553437 0.00010
NM_213599.3(ANO5):c.570A>G (p.Gln190=) rs144159801 0.00007
NM_213599.3(ANO5):c.674C>T (p.Pro225Leu) rs757947963 0.00006
NM_213599.3(ANO5):c.583C>T (p.Arg195Trp) rs149040903 0.00004
NM_213599.3(ANO5):c.653A>G (p.Tyr218Cys) rs548449293 0.00004
NM_213599.3(ANO5):c.1031C>G (p.Pro344Arg) rs541372136 0.00001
NM_213599.3(ANO5):c.2516T>C (p.Met839Thr) rs150442899 0.00001
NM_213599.3(ANO5):c.265G>T (p.Asp89Tyr) rs766228901 0.00001
NM_213599.3(ANO5):c.87G>A (p.Glu29=) rs1554919178 0.00001
NM_213599.3(ANO5):c.1222C>T (p.Leu408=) rs997655691
NM_213599.3(ANO5):c.1606A>T (p.Ile536Leu)
NM_213599.3(ANO5):c.1856C>A (p.Thr619Asn) rs1554931947
NM_213599.3(ANO5):c.1959T>G (p.Ser653Arg)
NM_213599.3(ANO5):c.2456A>G (p.Tyr819Cys) rs1554935116
NM_213599.3(ANO5):c.2648A>G (p.Lys883Arg)
NM_213599.3(ANO5):c.265_267delinsTAC (p.Asp89Tyr) rs2133588821
NM_213599.3(ANO5):c.2741A>G (p.Ter914=)
NM_213599.3(ANO5):c.298A>G (p.Arg100Gly) rs1554924008
NM_213599.3(ANO5):c.618CTT[1] (p.Phe208del) rs774304728
NM_213599.3(ANO5):c.879-7_879-6del rs143977836

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