ClinVar Miner

List of variants in gene ANO5 studied for Miyoshi myopathy

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Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_213599.3(ANO5):c.267T>C (p.Asp89=) rs4312063 0.83210
NM_213599.3(ANO5):c.-136G>C rs12792259 0.83191
NM_213599.3(ANO5):c.*3178C>G rs6483841 0.72187
NM_213599.3(ANO5):c.*1286G>T rs7925081 0.65457
NM_213599.3(ANO5):c.*496A>G rs10766930 0.53080
NM_213599.3(ANO5):c.*1521T>C rs73483433 0.09970
NM_213599.3(ANO5):c.*1313A>G rs73483432 0.09785
NM_213599.3(ANO5):c.*3152G>A rs79486036 0.04921
NM_213599.3(ANO5):c.*554C>T rs117180492 0.02476
NM_213599.3(ANO5):c.*279G>A rs72982058 0.02298
NM_213599.3(ANO5):c.*3168C>T rs35892535 0.01843
NM_213599.3(ANO5):c.2259A>G (p.Ser753=) rs61746201 0.01772
NM_213599.3(ANO5):c.*2095G>A rs142192440 0.01610
NM_213599.3(ANO5):c.*3155T>C rs78929863 0.01340
NM_213599.3(ANO5):c.*1328C>T rs78089375 0.01250
NM_213599.3(ANO5):c.-261A>C rs114897158 0.01250
NM_213599.3(ANO5):c.*1661C>T rs12284506 0.01249
NM_213599.3(ANO5):c.*930C>T rs78428314 0.01204
NM_213599.3(ANO5):c.1029C>T (p.Asp343=) rs78899595 0.00992
NM_213599.3(ANO5):c.*1429A>G rs78143145 0.00911
NM_213599.3(ANO5):c.*3350T>G rs144806967 0.00723
NM_213599.3(ANO5):c.*2357A>T rs151218419 0.00715
NM_213599.3(ANO5):c.*2869A>G rs115249135 0.00608
NM_213599.3(ANO5):c.*622G>A rs185108747 0.00343
NM_213599.3(ANO5):c.*1712T>C rs530413127 0.00216
NM_213599.3(ANO5):c.-210G>C rs181864243 0.00172
NM_213599.3(ANO5):c.*1967G>A rs147606218 0.00144
NM_213599.3(ANO5):c.*817A>G rs551128567 0.00104
NM_213599.3(ANO5):c.*3077G>C rs184295328 0.00049
NM_213599.3(ANO5):c.*2947A>T rs764082792 0.00048
NM_213599.3(ANO5):c.720G>T (p.Leu240=) rs147121216 0.00037
NM_213599.3(ANO5):c.*1757A>C rs886048136 0.00033
NM_213599.3(ANO5):c.*2207A>T rs143147634 0.00030
NM_213599.3(ANO5):c.*3373C>A rs868787906 0.00021
NM_213599.3(ANO5):c.*2568T>A rs150297037 0.00019
NM_213599.3(ANO5):c.*2274A>G rs372225865 0.00015
NM_213599.3(ANO5):c.*1119C>T rs886048131 0.00010
NM_213599.3(ANO5):c.2235+4A>C rs372056234 0.00010
NM_213599.3(ANO5):c.369G>A (p.Ser123=) rs199888040 0.00009
NM_213599.3(ANO5):c.*1941C>T rs183334403 0.00008
NM_213599.3(ANO5):c.*305A>T rs867650799 0.00006
NM_213599.3(ANO5):c.*2293G>C rs886048138 0.00005
NM_213599.3(ANO5):c.1924C>G (p.Arg642Gly) rs146341538 0.00005
NM_213599.3(ANO5):c.584G>A (p.Arg195Gln) rs143078257 0.00004
NM_213599.3(ANO5):c.*2752G>A rs752574891 0.00003
NM_213599.3(ANO5):c.*3196A>G rs886048142 0.00003
NM_213599.3(ANO5):c.1042G>A (p.Gly348Ser) rs139344099 0.00003
NM_213599.3(ANO5):c.1450C>T (p.Arg484Cys) rs777607869 0.00002
NM_213599.3(ANO5):c.*1248A>G rs886048132 0.00001
NM_213599.3(ANO5):c.*1647T>C rs886048133 0.00001
NM_213599.3(ANO5):c.*185A>G rs774589940 0.00001
NM_213599.3(ANO5):c.*3206A>G rs886048143 0.00001
NM_213599.3(ANO5):c.-162A>G rs61879341 0.00001
NM_213599.3(ANO5):c.1548C>T (p.Leu516=) rs886042624 0.00001
NM_213599.3(ANO5):c.1801-9T>C rs202034123 0.00001
NM_213599.3(ANO5):c.2139C>T (p.Thr713=) rs767479331 0.00001
NM_213599.3(ANO5):c.2236-5T>G rs886048122 0.00001
NM_213599.3(ANO5):c.2317A>G (p.Met773Val) rs751028884 0.00001
NM_213599.3(ANO5):c.2478G>T (p.Trp826Cys) rs886048124 0.00001
NM_213599.3(ANO5):c.567A>G (p.Ala189=) rs546565538 0.00001
NM_213599.3(ANO5):c.*106T>C rs886048126
NM_213599.3(ANO5):c.*1095G>A rs886048130
NM_213599.3(ANO5):c.*112_*113del rs5790246
NM_213599.3(ANO5):c.*114C>T rs12575889
NM_213599.3(ANO5):c.*114_*115del rs886048127
NM_213599.3(ANO5):c.*1666_*1669dup rs886048134
NM_213599.3(ANO5):c.*1674T>A rs886048135
NM_213599.3(ANO5):c.*1762del rs398015552
NM_213599.3(ANO5):c.*1890AAGA[1] rs397786204
NM_213599.3(ANO5):c.*220G>A rs886048128
NM_213599.3(ANO5):c.*2252T>C rs886048137
NM_213599.3(ANO5):c.*2296T>C rs762485787
NM_213599.3(ANO5):c.*2704A>C rs886048139
NM_213599.3(ANO5):c.*2784G>A rs886048140
NM_213599.3(ANO5):c.*2980T>C rs886048141
NM_213599.3(ANO5):c.*3251_*3253del rs548308698
NM_213599.3(ANO5):c.*3273G>C rs886048145
NM_213599.3(ANO5):c.*3473T>G rs886048147
NM_213599.3(ANO5):c.*3481dup rs147581685
NM_213599.3(ANO5):c.*811A>G rs886048129
NM_213599.3(ANO5):c.*99del rs376217145
NM_213599.3(ANO5):c.-161_-156AGG[3]GGAATGAGGAGGAGGAGGAGG[1] rs71034576
NM_213599.3(ANO5):c.-194G>T rs573002846
NM_213599.3(ANO5):c.-217G>T rs73479393
NM_213599.3(ANO5):c.1277T>C (p.Leu426Pro) rs886048119
NM_213599.3(ANO5):c.138+10G>A rs78987921
NM_213599.3(ANO5):c.138+7A>G rs886048118
NM_213599.3(ANO5):c.1641A>C (p.Arg547=) rs886048120
NM_213599.3(ANO5):c.2236-10_2236-7del rs886048121
NM_213599.3(ANO5):c.2249C>T (p.Ala750Val) rs886048123
NM_213599.3(ANO5):c.2580T>C (p.Asp860=) rs886048125
NM_213599.3(ANO5):c.2688C>G (p.Ala896=) rs377549896
NM_213599.3(ANO5):c.364-8del rs146983312
NM_213599.3(ANO5):c.79A>C (p.Met27Leu) rs886048117
NM_213599.3(ANO5):c.88-14C>T rs770721931
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe) rs7481951

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