ClinVar Miner

List of variants studied for Miyoshi muscular dystrophy 3

Included ClinVar conditions (3):
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ClinVar version:
Total variants: 67
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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.138+169G>A rs4922980 0.67443
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.2520+25G>C rs11026488 0.16418
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.879-18T>C rs7104758 0.06440
NM_213599.3(ANO5):c.*3152G>A rs79486036 0.04921
NM_213599.3(ANO5):c.*3121A>G rs35827261 0.04156
NM_213599.3(ANO5):c.1898+29G>T rs76084798 0.02917
NM_213599.3(ANO5):c.2521-13A>G rs76850415 0.02660
NM_213599.3(ANO5):c.1120-24A>T rs11026476 0.02147
NM_213599.3(ANO5):c.604G>A (p.Glu202Lys) rs115750596 0.00971
NM_213599.3(ANO5):c.616A>G (p.Thr206Ala) rs78266558 0.00922
NM_213599.3(ANO5):c.*1429A>G rs78143145 0.00911
NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu) rs61910685 0.00804
NM_213599.3(ANO5):c.800C>G (p.Thr267Ser) rs138144479 0.00727
NM_213599.3(ANO5):c.1545A>G (p.Ser515=) rs35843353 0.00699
NM_213599.3(ANO5):c.2354T>G (p.Leu785Arg) rs146136277 0.00524
NM_213599.3(ANO5):c.1095A>G (p.Leu365=) rs35804601 0.00183
NM_213599.3(ANO5):c.2521-7C>T rs201438159 0.00109
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_213599.3(ANO5):c.2029+19T>G rs374035760 0.00052
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00049
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) rs201725369 0.00016
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile) rs375014127 0.00015
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys) rs142073798 0.00014
NM_213599.3(ANO5):c.2256G>A (p.Thr752=) rs144048656 0.00013
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser) rs137854526 0.00010
NM_213599.3(ANO5):c.1640G>A (p.Arg547Gln) rs139618850 0.00009
NM_213599.3(ANO5):c.1898+1G>A rs142027093 0.00009
NM_213599.3(ANO5):c.1295C>G (p.Ala432Gly) rs137854524 0.00001
NM_213599.3(ANO5):c.1407+5G>A rs281865464 0.00001
NM_213599.3(ANO5):c.148C>T (p.Arg50Ter) rs1168346560 0.00001
NM_213599.3(ANO5):c.169C>T (p.Arg57Trp) rs1323349209 0.00001
NM_213599.3(ANO5):c.424A>T (p.Thr142Ser) rs757367942 0.00001
NM_213599.2(ANO5):c.[155A>G];[191dupA]
NM_213599.3(ANO5):c.*113del rs5790246
NM_213599.3(ANO5):c.*1762del rs398015552
NM_213599.3(ANO5):c.*3481dup rs147581685
NM_213599.3(ANO5):c.-217G>T rs73479393
NM_213599.3(ANO5):c.1081G>C (p.Asp361His) rs1554929295
NM_213599.3(ANO5):c.1158del (p.Phe386fs) rs1564936489
NM_213599.3(ANO5):c.1359C>G (p.Tyr453Ter) rs754889480
NM_213599.3(ANO5):c.139-164del rs60388835
NM_213599.3(ANO5):c.1418_1421delinsGGACGACACCAGTGACGA (p.Val473fs)
NM_213599.3(ANO5):c.1627dup (p.Met543fs) rs281865480
NM_213599.3(ANO5):c.1693_1715del (p.Phe565fs) rs1554931773
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
NM_213599.3(ANO5):c.2004del (p.Leu669fs) rs886043172
NM_213599.3(ANO5):c.2116C>T (p.Arg706Ter) rs768835530
NM_213599.3(ANO5):c.2236-10del rs72105710
NM_213599.3(ANO5):c.2236-10dup rs72105710
NM_213599.3(ANO5):c.2236-12_2236-10del rs72105710
NM_213599.3(ANO5):c.2236-13_2236-10del rs72105710
NM_213599.3(ANO5):c.2286C>G (p.Tyr762Ter)
NM_213599.3(ANO5):c.2415-22del rs5790245
NM_213599.3(ANO5):c.2646C>G (p.Asn882Lys) rs34969327
NM_213599.3(ANO5):c.304_308del (p.Lys102fs) rs776859202
NM_213599.3(ANO5):c.364-8del rs146983312
NM_213599.3(ANO5):c.898dup (p.Ile300fs) rs1383346134
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe) rs7481951
NM_213599.3(ANO5):c.989dup (p.Leu330fs) rs398124626
NM_213599.3(ANO5):c.[1520del];[155A>G]

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