List of variants in gene GNE reported as uncertain significance by GeneDx

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: 32

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HGVS	dbSNP	gnomAD frequency
NM_005476.7(GNE):c.1267A>G (p.Ile423Val)	rs35638832	0.00066
NM_005476.7(GNE):c.1412-4G>A	rs146067766	0.00023
NM_005476.7(GNE):c.1442G>A (p.Arg481Gln)	rs138357804	0.00008
NM_005476.7(GNE):c.1651A>G (p.Ile551Val)	rs754313408	0.00008
NM_005476.7(GNE):c.1070+5G>A	rs374170125	0.00006
NM_005476.7(GNE):c.1234G>A (p.Val412Ile)	rs369714039	0.00004
NM_005476.7(GNE):c.1429C>T (p.Arg477Cys)	rs551854437	0.00004
NM_005476.7(GNE):c.598A>T (p.Ile200Phe)	rs369328625	0.00004
NM_005476.7(GNE):c.725C>T (p.Ser242Leu)	rs771167726	0.00004
NM_005476.7(GNE):c.1907C>T (p.Ala636Val)	rs756488394	0.00003
NM_005476.7(GNE):c.302G>A (p.Arg101His)	rs144727134	0.00002
NM_005476.7(GNE):c.485G>A (p.Arg162His)	rs747640708	0.00002
NM_005476.7(GNE):c.604C>T (p.Arg202Cys)	rs756309840	0.00002
NM_005476.7(GNE):c.1250C>T (p.Thr417Met)	rs1554659711	0.00001
NM_005476.7(GNE):c.2029C>T (p.His677Tyr)	rs527267621	0.00001
NM_005476.7(GNE):c.724T>A (p.Ser242Thr)	rs774970723	0.00001
NM_005476.7(GNE):c.766G>A (p.Ala256Thr)	rs375740268	0.00001
NM_005476.7(GNE):c.1538G>T (p.Trp513Leu)	rs2133021459
NM_005476.7(GNE):c.1766C>G (p.Ala589Gly)
NM_005476.7(GNE):c.1978A>G (p.Met660Val)	rs1554658048
NM_005476.7(GNE):c.1990C>G (p.Leu664Val)
NM_005476.7(GNE):c.2050C>T (p.Arg684Cys)	rs139347806
NM_005476.7(GNE):c.2083G>T (p.Asp695Tyr)	rs2132992493
NM_005476.7(GNE):c.2086G>T (p.Val696Leu)	rs121908627
NM_005476.7(GNE):c.211A>T (p.Arg71Trp)	rs886044539
NM_005476.7(GNE):c.328C>G (p.His110Asp)	rs2133113061
NM_005476.7(GNE):c.463C>T (p.His155Tyr)
NM_005476.7(GNE):c.476G>C (p.Cys159Ser)	rs2489787192
NM_005476.7(GNE):c.711G>C (p.Leu237Phe)	rs724159957
NM_005476.7(GNE):c.788G>A (p.Arg263Gln)	rs121908623
NM_005476.7(GNE):c.820C>G (p.Pro274Ala)
NM_005476.7(GNE):c.92G>C (p.Gly31Ala)

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