List of variants in gene GNE reported as uncertain significance for Inclusion Body Myopathy, Recessive

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_005476.7(GNE):c.*691A>T	rs10972791	0.11652
NM_005476.7(GNE):c.*1728C>T	rs41277097	0.00070
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.*1575C>T	rs761447556	0.00019
NM_005476.7(GNE):c.*208T>C	rs771508931	0.00019
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.*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.*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.*2410G>C	rs886063917
NM_005476.7(GNE):c.2905_2906del	rs886063913
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.1816+11del	rs886063925
NM_005476.7(GNE):c.315T>C (p.Asp105=)	rs886063927

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