ClinVar Miner

List of variants reported for not provided by ANO5 @LOVD

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_213599.3(ANO5):c.295-325A>G rs4509753 0.83242
NM_213599.3(ANO5):c.267T>C (p.Asp89=) rs4312063 0.83210
NM_213599.3(ANO5):c.180+223G>A rs4620717 0.83192
NM_213599.3(ANO5):c.-136G>C rs12792259 0.83191
NM_213599.3(ANO5):c.138+169G>A rs4922980 0.67443
NM_213599.3(ANO5):c.138+206T>C rs4922981 0.67232
NM_213599.3(ANO5):c.2520+25G>C rs11026488 0.16418
NM_213599.3(ANO5):c.879-76T>A rs7104736 0.16088
NM_213599.3(ANO5):c.762+87G>A rs11026471 0.15642
NM_213599.3(ANO5):c.649-166A>G rs4534588 0.15597
NM_213599.3(ANO5):c.1630+181A>G rs7108392 0.07152
NM_213599.3(ANO5):c.879-18T>C rs7104758 0.06440
NM_213599.3(ANO5):c.1630+61T>G rs12574168 0.02075
NM_213599.3(ANO5):c.2029+147A>G rs7925115 0.01786
NM_213599.3(ANO5):c.2521-29G>A rs12282177 0.01265
NM_213599.3(ANO5):c.1545A>G (p.Ser515=) rs35843353 0.00699
NM_213599.3(ANO5):c.1095A>G (p.Leu365=) rs35804601 0.00183
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.1733T>C (p.Phe578Ser) rs137854526 0.00010
NM_213599.3(ANO5):c.2018A>G (p.Tyr673Cys) rs137854527 0.00003
NM_213599.3(ANO5):c.-162A>G rs61879341 0.00001
NM_213599.3(ANO5):c.1295C>G (p.Ala432Gly) rs137854524 0.00001
NM_213599.3(ANO5):c.1066T>C (p.Cys356Arg) rs119103234
NM_213599.3(ANO5):c.1066T>G (p.Cys356Gly) rs119103234
NM_213599.3(ANO5):c.1391delinsAT (p.Ala464fs) rs137854525
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
NM_213599.3(ANO5):c.2311_2312del (p.Gln771fs) rs137854528
NM_213599.3(ANO5):c.2646C>G (p.Asn882Lys) rs34969327
NM_213599.3(ANO5):c.363+4A>G rs137854522
NM_213599.3(ANO5):c.649-114T>G rs11820954
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe) rs7481951

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