ClinVar Miner

List of variants in gene ANO5 reported as uncertain significance for Limb-Girdle Muscular Dystrophy, Recessive

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Total variants: 81
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HGVS dbSNP
NM_213599.2(ANO5):c.*106T>C rs886048126
NM_213599.2(ANO5):c.*1095G>A rs886048130
NM_213599.2(ANO5):c.*1119C>T rs886048131
NM_213599.2(ANO5):c.*112_*113delTT rs5790246
NM_213599.2(ANO5):c.*114C>T rs12575889
NM_213599.2(ANO5):c.*114_*115delCT rs886048127
NM_213599.2(ANO5):c.*1248A>G rs886048132
NM_213599.2(ANO5):c.*1328C>T rs78089375
NM_213599.2(ANO5):c.*1647T>C rs886048133
NM_213599.2(ANO5):c.*1661C>T rs12284506
NM_213599.2(ANO5):c.*1666_*1669dupGAGT rs886048134
NM_213599.2(ANO5):c.*1674T>A rs886048135
NM_213599.2(ANO5):c.*1712T>C rs530413127
NM_213599.2(ANO5):c.*1757A>C rs886048136
NM_213599.2(ANO5):c.*185A>G rs774589940
NM_213599.2(ANO5):c.*1941C>T rs183334403
NM_213599.2(ANO5):c.*1967G>A rs147606218
NM_213599.2(ANO5):c.*2095G>A rs142192440
NM_213599.2(ANO5):c.*2207A>T rs143147634
NM_213599.2(ANO5):c.*220G>A rs886048128
NM_213599.2(ANO5):c.*2252T>C rs886048137
NM_213599.2(ANO5):c.*2274A>G rs372225865
NM_213599.2(ANO5):c.*2293G>C rs886048138
NM_213599.2(ANO5):c.*2296T>C rs762485787
NM_213599.2(ANO5):c.*2357A>T rs151218419
NM_213599.2(ANO5):c.*2568T>A rs150297037
NM_213599.2(ANO5):c.*2704A>C rs886048139
NM_213599.2(ANO5):c.*2752G>A rs752574891
NM_213599.2(ANO5):c.*2784G>A rs886048140
NM_213599.2(ANO5):c.*279G>A rs72982058
NM_213599.2(ANO5):c.*2869A>G rs115249135
NM_213599.2(ANO5):c.*2947A>T rs764082792
NM_213599.2(ANO5):c.*2980T>C rs886048141
NM_213599.2(ANO5):c.*305A>T rs867650799
NM_213599.2(ANO5):c.*3077G>C rs184295328
NM_213599.2(ANO5):c.*3155T>C rs78929863
NM_213599.2(ANO5):c.*3168C>T rs35892535
NM_213599.2(ANO5):c.*3196A>G rs886048142
NM_213599.2(ANO5):c.*3206A>G rs886048143
NM_213599.2(ANO5):c.*3251_*3253delACT rs548308698
NM_213599.2(ANO5):c.*3273G>C rs886048145
NM_213599.2(ANO5):c.*3350T>G rs144806967
NM_213599.2(ANO5):c.*3373C>A rs868787906
NM_213599.2(ANO5):c.*3473T>G rs886048147
NM_213599.2(ANO5):c.*554C>T rs117180492
NM_213599.2(ANO5):c.*622G>A rs185108747
NM_213599.2(ANO5):c.*811A>G rs886048129
NM_213599.2(ANO5):c.*817A>G rs551128567
NM_213599.2(ANO5):c.*930C>T rs78428314
NM_213599.2(ANO5):c.*99delC rs376217145
NM_213599.2(ANO5):c.-162A>G rs61879341
NM_213599.2(ANO5):c.-194G>T rs573002846
NM_213599.2(ANO5):c.-210G>C rs181864243
NM_213599.2(ANO5):c.-261A>C rs114897158
NM_213599.2(ANO5):c.-65G>C rs886048116
NM_213599.2(ANO5):c.1029C>T (p.Asp343=) rs78899595
NM_213599.2(ANO5):c.1042G>A (p.Gly348Ser) rs139344099
NM_213599.2(ANO5):c.1277T>C (p.Leu426Pro) rs886048119
NM_213599.2(ANO5):c.138+10G>A rs78987921
NM_213599.2(ANO5):c.138+7A>G rs886048118
NM_213599.2(ANO5):c.1450C>T (p.Arg484Cys) rs777607869
NM_213599.2(ANO5):c.1548C>T (p.Leu516=) rs886042624
NM_213599.2(ANO5):c.1641A>C (p.Arg547=) rs886048120
NM_213599.2(ANO5):c.1801-9T>C rs202034123
NM_213599.2(ANO5):c.1924C>G (p.Arg642Gly) rs146341538
NM_213599.2(ANO5):c.2139C>T (p.Thr713=) rs767479331
NM_213599.2(ANO5):c.2235+4A>C rs372056234
NM_213599.2(ANO5):c.2236-10_2236-7delTATT rs886048121
NM_213599.2(ANO5):c.2236-5T>G rs886048122
NM_213599.2(ANO5):c.2249C>T (p.Ala750Val) rs886048123
NM_213599.2(ANO5):c.2259A>G (p.Ser753=) rs61746201
NM_213599.2(ANO5):c.2317A>G (p.Met773Val) rs751028884
NM_213599.2(ANO5):c.2478G>T (p.Trp826Cys) rs886048124
NM_213599.2(ANO5):c.2580T>C (p.Asp860=) rs886048125
NM_213599.2(ANO5):c.2688C>G (p.Ala896=) rs377549896
NM_213599.2(ANO5):c.369G>A (p.Ser123=) rs199888040
NM_213599.2(ANO5):c.567A>G (p.Ala189=) rs546565538
NM_213599.2(ANO5):c.584G>A (p.Arg195Gln) rs143078257
NM_213599.2(ANO5):c.720G>T (p.Leu240=) rs147121216
NM_213599.2(ANO5):c.79A>C (p.Met27Leu) rs886048117
NM_213599.2(ANO5):c.88-14C>T rs770721931

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