ClinVar Miner

List of variants reported as likely benign for autosomal recessive distal myopathy

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 54
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HGVS dbSNP
NM_001130987.2(DYSF):c.*199T>G rs13429381
NM_001130987.2(DYSF):c.1038C>T (p.His346=) rs36122356
NM_001130987.2(DYSF):c.1276+11C>T rs35982795
NM_001130987.2(DYSF):c.1577-1635C>G rs76402294
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=) rs35721373
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val) rs34671418
NM_001130987.2(DYSF):c.3239_3244CGGAGG[3] (p.1080_1081AE[3]) rs398123779
NM_001130987.2(DYSF):c.396C>T (p.Pro132=) rs34603128
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=) rs2303607
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530
NM_001130987.2(DYSF):c.6321+15C>T rs2559082
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val) rs13407355
NM_001130987.2(DYSF):c.666T>C (p.Pro222=) rs35392229
NM_001130987.2(DYSF):c.888+11T>C rs13428076
NM_001130987.2(DYSF):c.951+4T>C rs11903960
NM_005476.7(GNE):c.*1021A>G rs10435799
NM_005476.7(GNE):c.*1204T>C rs183365416
NM_005476.7(GNE):c.*1635G>A rs190727651
NM_005476.7(GNE):c.*2056C>T rs183641957
NM_005476.7(GNE):c.*2211C>G rs150978860
NM_005476.7(GNE):c.*2269C>T rs575299401
NM_005476.7(GNE):c.*2415T>A rs143569888
NM_005476.7(GNE):c.*2576A>G rs531142218
NM_005476.7(GNE):c.*277_*279ATA[1] rs140089561
NM_005476.7(GNE):c.*2789G>A rs140396892
NM_005476.7(GNE):c.*30C>G rs540975887
NM_005476.7(GNE):c.*583G>A rs182741472
NM_005476.7(GNE):c.*74G>A rs16933089
NM_005476.7(GNE):c.*937G>A rs191229205
NM_005476.7(GNE):c.-152G>T rs142004500
NM_005476.7(GNE):c.-65G>A rs138897916
NM_005476.7(GNE):c.1267A>G (p.Ile423Val) rs35638832
NM_005476.7(GNE):c.1281+6A>T rs201025841
NM_005476.7(GNE):c.1311C>T (p.Phe437=) rs1554659051
NM_005476.7(GNE):c.1509C>G (p.Pro503=) rs141172610
NM_005476.7(GNE):c.1770C>T (p.Tyr590=) rs111302956
NM_005476.7(GNE):c.1872G>A (p.Ala624=) rs145361930
NM_005476.7(GNE):c.2086G>T (p.Val696Leu) rs121908627
NM_005476.7(GNE):c.2112C>T (p.Pro704=) rs779967033
NM_005476.7(GNE):c.2118G>A (p.Leu706=) rs1554657933
NM_005476.7(GNE):c.297T>C (p.Leu99=) rs544304534
NM_005476.7(GNE):c.804G>A (p.Lys268=) rs141814943
NM_213599.2(ANO5):c.*1286G>T rs7925081
NM_213599.2(ANO5):c.*1313A>G rs73483432
NM_213599.2(ANO5):c.*1429A>G rs78143145
NM_213599.2(ANO5):c.*1521T>C rs73483433
NM_213599.2(ANO5):c.*1762del rs398015552
NM_213599.2(ANO5):c.*1894_*1897delAAGA rs397786204
NM_213599.2(ANO5):c.*3152G>A rs79486036
NM_213599.2(ANO5):c.*3481dup rs147581685
NM_213599.2(ANO5):c.*496A>G rs10766930
NM_213599.2(ANO5):c.-217G>T rs73479393
NM_213599.2(ANO5):c.364-8del rs146983312
NM_213599.2(ANO5):c.966A>T (p.Leu322Phe) rs7481951

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