List of variants reported as uncertain significance for GNE myopathy by Illumina Laboratory Services, Illumina

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 71

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HGVS	dbSNP	gnomAD frequency
NM_005476.7(GNE):c.*691A>T	rs10972791	0.11652
NM_005476.7(GNE):c.*1660A>G	rs185870650	0.00237
NM_005476.7(GNE):c.-102G>C	rs1053014986	0.00095
NM_005476.7(GNE):c.*1728C>T	rs41277097	0.00070
NM_005476.7(GNE):c.*2679G>A	rs566044462	0.00058
NM_005476.7(GNE):c.*446C>T	rs886063924	0.00033
NM_005476.7(GNE):c.*582A>G	rs999645453	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.*1007G>A	rs1192808563	0.00017
NM_005476.7(GNE):c.*2847T>C	rs886063915	0.00016
NM_005476.7(GNE):c.*1038T>C	rs975309543	0.00014
NM_005476.7(GNE):c.*2877T>C	rs886063914	0.00013
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.1412-4G>A	rs146067766	0.00009
NM_005476.7(GNE):c.*2448A>G	rs757287887	0.00008
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.*573G>A	rs1032415165	0.00006
NM_005476.7(GNE):c.*872C>T	rs1008750814	0.00005
NM_005476.7(GNE):c.*554G>A	rs755277976	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.-51C>T	rs368282013	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.*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.*2185T>A	rs1828216707
NM_005476.7(GNE):c.*2410G>C	rs886063917
NM_005476.7(GNE):c.2905_2906del	rs886063913
NM_005476.7(GNE):c.*292C>G	rs1335595008
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.*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.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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