List of variants reported as pathogenic for GNE myopathy; Sialuria; Thrombocytopenia 12 with or without myopathy

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr)	rs199877522	0.00021
NM_005476.7(GNE):c.1892C>T (p.Ala631Val)	rs62541771	0.00011
NM_005476.7(GNE):c.175C>T (p.Arg59Ter)	rs745517517	0.00003
NM_005476.7(GNE):c.527A>T (p.Asp176Val)	rs139425890	0.00003
NM_005476.7(GNE):c.737G>A (p.Arg246Gln)	rs121908629	0.00003
NM_005476.7(GNE):c.916C>T (p.Arg306Ter)	rs1057516374	0.00003
NM_005476.7(GNE):c.1714G>C (p.Val572Leu)	rs121908632	0.00002
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr)	rs748949603	0.00002
NM_005476.7(GNE):c.1258C>T (p.Arg420Ter)	rs747199032	0.00001
NM_005476.7(GNE):c.2023T>C (p.Tyr675His)	rs1191857860	0.00001
NM_005476.7(GNE):c.2135T>C (p.Met712Thr)	rs28937594	0.00001
NM_005476.7(GNE):c.736C>T (p.Arg246Trp)	rs773729410	0.00001
NM_005476.7(GNE):c.1571C>T (p.Ala524Val)	rs764698870
NM_005476.7(GNE):c.2086G>A (p.Val696Met)	rs121908627
NM_005476.7(GNE):c.484C>T (p.Arg162Cys)	rs769215411

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