ClinVar Miner

List of variants in gene GNE studied for Inclusion Body Myopathy, Recessive

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Gene type:
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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_005476.7(GNE):c.*2391C>T rs1043313 0.71766
NM_005476.7(GNE):c.*1781G>A rs16933086 0.17302
NM_005476.7(GNE):c.*691A>T rs10972791 0.11652
NM_005476.7(GNE):c.*1826G>C rs7044157 0.10230
NM_005476.7(GNE):c.*630C>T rs150102934 0.03992
NM_005476.7(GNE):c.600C>T (p.Ile200=) rs7047950 0.02902
NM_005476.7(GNE):c.*1054C>A rs7048468 0.01927
NM_005476.7(GNE):c.1770C>T (p.Tyr590=) rs111302956 0.01688
NM_005476.7(GNE):c.*74G>A rs16933089 0.01338
NM_005476.7(GNE):c.*2211C>G rs150978860 0.01319
NM_005476.7(GNE):c.*583G>A rs182741472 0.00279
NM_005476.7(GNE):c.*2056C>T rs183641957 0.00160
NM_005476.7(GNE):c.1872G>A (p.Ala624=) rs145361930 0.00126
NM_005476.7(GNE):c.*1635G>A rs190727651 0.00080
NM_005476.7(GNE):c.*1728C>T rs41277097 0.00070
NM_005476.7(GNE):c.1267A>G (p.Ile423Val) rs35638832 0.00066
NM_005476.7(GNE):c.*2576A>G rs531142218 0.00063
NM_005476.7(GNE):c.*2679G>A rs566044462 0.00054
NM_005476.7(GNE):c.*446C>T rs886063924 0.00029
NM_005476.7(GNE):c.*2789G>A rs140396892 0.00026
NM_005476.7(GNE):c.-152G>T rs142004500 0.00026
NM_005476.7(GNE):c.*1575C>T rs761447556 0.00019
NM_005476.7(GNE):c.*208T>C rs771508931 0.00019
NM_005476.7(GNE):c.*2415T>A rs143569888 0.00017
NM_005476.7(GNE):c.*2269C>T rs575299401 0.00014
NM_005476.7(GNE):c.*2847T>C rs886063915 0.00010
NM_005476.7(GNE):c.*2877T>C rs886063914 0.00010
NM_005476.7(GNE):c.*2448A>G rs757287887 0.00006
NM_005476.7(GNE):c.1281+6A>T rs201025841 0.00006
NM_005476.7(GNE):c.*1204T>C rs183365416 0.00004
NM_005476.7(GNE):c.*554G>A rs755277976 0.00003
NM_005476.7(GNE):c.*2766T>C rs886063916 0.00002
NM_001128227.3(GNE):c.52-9097C>T rs886063929 0.00001
NM_005476.7(GNE):c.*1021A>G rs10435799 0.00001
NM_005476.7(GNE):c.*513G>A rs886063923 0.00001
NM_001128227.3(GNE):c.52-9070C>T rs886063928
NM_005476.7(GNE):c.*1012CA[10] rs10527967
NM_005476.7(GNE):c.*1012CA[14] rs10527967
NM_005476.7(GNE):c.*1012CA[15] rs10527967
NM_005476.7(GNE):c.*1012CA[16] rs10527967
NM_005476.7(GNE):c.*1012CA[22] rs10527967
NM_005476.7(GNE):c.*1694G>C rs886063918
NM_005476.7(GNE):c.*2156G>C rs2741725
NM_005476.7(GNE):c.*2196dup rs199874473
NM_005476.7(GNE):c.*2410G>C rs886063917
NM_005476.7(GNE):c.*277ATA[1] rs140089561
NM_005476.7(GNE):c.*2905_*2906del rs886063913
NM_005476.7(GNE):c.*30C>G rs540975887
NM_005476.7(GNE):c.*692AAT[10] rs113316798
NM_005476.7(GNE):c.*692AAT[12] rs113316798
NM_005476.7(GNE):c.*692AAT[13] rs113316798
NM_005476.7(GNE):c.*692AAT[9] rs113316798
NM_005476.7(GNE):c.*693A>T rs886063922
NM_005476.7(GNE):c.*694T>A rs867926432
NM_005476.7(GNE):c.*702dup rs886063921
NM_005476.7(GNE):c.*936C>T rs56974443
NM_005476.7(GNE):c.*937G>A rs191229205
NM_005476.7(GNE):c.1816+11del rs886063925
NM_005476.7(GNE):c.2086G>T (p.Val696Leu) rs121908627
NM_005476.7(GNE):c.315T>C (p.Asp105=) rs886063927

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