ClinVar Miner

List of variants studied for Miyoshi muscular dystrophy 3 by Genome-Nilou Lab

Included ClinVar conditions (3):
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Total variants: 39
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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.2029+19T>G rs374035760 0.00052
NM_213599.3(ANO5):c.2256G>A (p.Thr752=) rs144048656 0.00013
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.139-164del rs60388835
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.2415-22del rs5790245
NM_213599.3(ANO5):c.2646C>G (p.Asn882Lys) rs34969327
NM_213599.3(ANO5):c.364-8del rs146983312
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe) rs7481951

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