ClinVar Miner

List of variants studied for GNE myopathy by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 104
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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.-65G>A rs138897916 0.00463
NM_005476.7(GNE):c.*1068A>T rs187875852 0.00423
NM_005476.7(GNE):c.*583G>A rs182741472 0.00279
NM_005476.7(GNE):c.*1660A>G rs185870650 0.00237
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.-102G>C rs1053014986 0.00095
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.*582A>G rs999645453 0.00026
NM_005476.7(GNE):c.-152G>T rs142004500 0.00026
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr) rs199877522 0.00021
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.*1007G>A rs1192808563 0.00017
NM_005476.7(GNE):c.*2415T>A rs143569888 0.00017
NM_005476.7(GNE):c.*1038T>C rs975309543 0.00014
NM_005476.7(GNE):c.*2269C>T rs575299401 0.00014
NM_005476.7(GNE):c.*252A>C rs745365886 0.00012
NM_005476.7(GNE):c.*2537G>A rs1042849497 0.00011
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.1412-4G>A rs146067766 0.00009
NM_005476.7(GNE):c.165-9C>T rs760509369 0.00008
NM_005476.7(GNE):c.1293T>A (p.Val431=) rs143485388 0.00007
NM_005476.7(GNE):c.*2448A>G rs757287887 0.00006
NM_005476.7(GNE):c.*573G>A rs1032415165 0.00006
NM_005476.7(GNE):c.1281+6A>T rs201025841 0.00006
NM_005476.7(GNE):c.*872C>T rs1008750814 0.00005
NM_005476.7(GNE):c.*1204T>C rs183365416 0.00004
NM_005476.7(GNE):c.1234G>A (p.Val412Ile) rs369714039 0.00004
NM_005476.7(GNE):c.1767A>G (p.Ala589=) rs777310871 0.00004
NM_005476.7(GNE):c.1908G>A (p.Ala636=) rs200812140 0.00004
NM_005476.7(GNE):c.*2245A>T rs1193929989 0.00003
NM_005476.7(GNE):c.*512C>T rs537851886 0.00003
NM_005476.7(GNE):c.*554G>A rs755277976 0.00003
NM_005476.7(GNE):c.-51C>T rs368282013 0.00003
NM_005476.7(GNE):c.527A>T (p.Asp176Val) rs139425890 0.00003
NM_005476.7(GNE):c.*2431A>G rs917794045 0.00002
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.*2453C>A rs1163596916 0.00001
NM_005476.7(GNE):c.*2550G>A rs191345940 0.00001
NM_005476.7(GNE):c.*2709T>C rs1390610132 0.00001
NM_005476.7(GNE):c.*513G>A rs886063923 0.00001
NM_005476.7(GNE):c.1251G>A (p.Thr417=) rs758086020 0.00001
NM_005476.7(GNE):c.1639G>T (p.Gly547Cys) rs1306768272 0.00001
NM_005476.7(GNE):c.2079C>T (p.Asp693=) rs548244588 0.00001
NM_005476.7(GNE):c.2096C>T (p.Ser699Leu) rs552758282 0.00001
NM_005476.7(GNE):c.530G>A (p.Arg177His) rs772597073 0.00001
NM_005476.7(GNE):c.612G>A (p.Trp204Ter) rs786204476 0.00001
NM_001128227.3(GNE):c.52-9070C>T rs886063928
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter) rs794727279
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.*1127C>T rs1828268117
NM_005476.7(GNE):c.*1694G>C rs886063918
NM_005476.7(GNE):c.*1854C>T rs1828233358
NM_005476.7(GNE):c.*2156G>C rs2741725
NM_005476.7(GNE):c.*2185T>A rs1828216707
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.*292C>G rs1335595008
NM_005476.7(GNE):c.*30C>G rs540975887
NM_005476.7(GNE):c.*663A>G rs1373838375
NM_005476.7(GNE):c.*690T>A rs10972792
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.*988G>C rs916769105
NM_005476.7(GNE):c.1281+13C>A rs1022557448
NM_005476.7(GNE):c.1482G>A (p.Glu494=) rs1485580233
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
NM_005476.7(GNE):c.753T>C (p.Phe251=) rs370479900
NM_005476.7(GNE):c.769+4A>G rs886063926

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