List of variants in gene GNE reported as benign for Sialuria

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: 30

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HGVS	dbSNP	gnomAD frequency
NM_001128227.3(GNE):c.51+34T>C	rs7875447	0.75717
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.1817-81G>C	rs2296817	0.15990
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_001128227.3(GNE):c.51+63A>G	rs185045598	0.00436
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.*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.*2789G>A	rs140396892	0.00026
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.*1204T>C	rs183365416	0.00004
NM_005476.7(GNE):c.1234G>A (p.Val412Ile)	rs369714039	0.00004
NM_005476.7(GNE):c.1908G>A (p.Ala636=)	rs200812140	0.00004
NM_005476.7(GNE):c.*1021A>G	rs10435799	0.00001
NM_005476.7(GNE):c.*2156G>C	rs2741725
NM_005476.7(GNE):c.*2196dup	rs199874473
NM_005476.7(GNE):c.*936C>T	rs56974443
NM_005476.7(GNE):c.*937G>A	rs191229205

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