ClinVar Miner

List of variants reported as benign for Miyoshi myopathy

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.3928-85G>T rs1529408 0.96005
NM_001130987.2(DYSF):c.5885-16T>C rs1863812 0.91575
NM_001130987.2(DYSF):c.4626+43A>G rs84182 0.87024
NM_001130987.2(DYSF):c.4528-56A>G rs84181 0.85683
NM_213599.3(ANO5):c.267T>C (p.Asp89=) rs4312063 0.83210
NM_213599.3(ANO5):c.-136G>C rs12792259 0.83191
NM_001130987.2(DYSF):c.1277-48A>G rs4852800 0.81805
NM_001130987.2(DYSF):c.1034-68T>C rs12713755 0.81086
NM_001130987.2(DYSF):c.1003-73A>G rs11675897 0.81016
NM_001130987.2(DYSF):c.5004-37C>T rs2303599 0.79706
NM_001130987.2(DYSF):c.5785-41C>T rs2559081 0.77107
NM_001130987.2(DYSF):c.1985-116T>C rs2303597 0.72705
NM_213599.3(ANO5):c.*3178C>G rs6483841 0.72187
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596 0.71202
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355 0.69367
NM_001130987.2(DYSF):c.1033+94G>T rs11687223 0.68496
NM_001130987.2(DYSF):c.1450-88A>G rs4852802 0.67986
NM_213599.3(ANO5):c.138+169G>A rs4922980 0.67443
NM_213599.3(ANO5):c.*1286G>T rs7925081 0.65457
NM_001130987.2(DYSF):c.1449+13C>T rs4852801 0.60553
NM_001130987.2(DYSF):c.3403-121G>C rs3811611 0.59433
NM_001130987.2(DYSF):c.2979+112A>C rs10183967 0.57695
NM_213599.3(ANO5):c.*496A>G rs10766930 0.53080
NM_001130987.2(DYSF):c.1034-20G>A rs12713756 0.48623
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606 0.47852
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530 0.23571
NM_001130987.2(DYSF):c.460+150A>G rs57229705 0.19499
NM_001130987.2(DYSF):c.6321+15C>T rs2559082 0.19470
NM_001130987.2(DYSF):c.3086-17G>A rs3764971 0.18932
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=) rs11558179 0.18595
NM_001130987.2(DYSF):c.-30G>A rs61333801 0.17633
NM_213599.3(ANO5):c.2520+25G>C rs11026488 0.16418
NM_001130987.2(DYSF):c.1276+11C>T rs35982795 0.15096
NM_001130987.2(DYSF):c.2864+84G>C rs62143855 0.14839
NM_001130987.2(DYSF):c.396C>T (p.Pro132=) rs34603128 0.14353
NM_001130987.2(DYSF):c.888+11T>C rs13428076 0.13574
NM_001130987.2(DYSF):c.1494-163G>T rs79617374 0.13069
NM_001130987.2(DYSF):c.1034-64C>T rs55695728 0.12659
NM_001130987.2(DYSF):c.4221+96C>T rs2016605 0.12613
NM_001130987.2(DYSF):c.760-17C>T rs61104194 0.11792
NM_213599.3(ANO5):c.*1521T>C rs73483433 0.09970
NM_001130987.2(DYSF):c.951+4T>C rs11903960 0.09951
NM_001130987.2(DYSF):c.889-104G>A rs13417592 0.09831
NM_213599.3(ANO5):c.*1313A>G rs73483432 0.09785
NM_001130987.2(DYSF):c.148-91C>T rs35628632 0.09296
NM_001130987.2(DYSF):c.1149+54C>T rs56343439 0.09198
NM_001130987.2(DYSF):c.4221+119A>G rs1814333 0.08837
NM_001130987.2(DYSF):c.239+20G>A rs12470028 0.08061
NM_001130987.2(DYSF):c.1038C>T (p.His346=) rs36122356 0.06463
NM_213599.3(ANO5):c.879-18T>C rs7104758 0.06440
NM_213599.3(ANO5):c.*3152G>A rs79486036 0.04921
NM_001130987.2(DYSF):c.3575-17C>T rs13421969 0.04340
NM_001130987.2(DYSF):c.1807-24C>G rs2303595 0.04339
NM_213599.3(ANO5):c.*3121A>G rs35827261 0.04156
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=) rs35721373 0.03282
NM_001130987.2(DYSF):c.889-68G>A rs28500662 0.03261
NM_001130987.2(DYSF):c.460+82C>T rs79084610 0.03125
NM_213599.3(ANO5):c.1898+29G>T rs76084798 0.02917
NM_213599.3(ANO5):c.2521-13A>G rs76850415 0.02660
NM_001130987.2(DYSF):c.4222-20G>A rs111935215 0.02442
NM_001130987.2(DYSF):c.2410-117A>G rs72827550 0.02151
NM_213599.3(ANO5):c.1120-24A>T rs11026476 0.02147
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=) rs2303607 0.02075
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_001130987.2(DYSF):c.3229-61G>C rs57041989
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3]) rs398123779
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.-161_-156AGG[3]GGAATGAGGAGGAGGAGGAGG[1] rs71034576
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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