ClinVar Miner

List of variants in gene GNE reported by PreventionGenetics, part of Exact Sciences

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001128227.3(GNE):c.51+34T>C rs7875447 0.75717
NM_005476.7(GNE):c.1281+44G>A rs16933102 0.03050
NM_005476.7(GNE):c.600C>T (p.Ile200=) rs7047950 0.02902
NM_005476.7(GNE):c.1770C>T (p.Tyr590=) rs111302956 0.01688
NM_001128227.3(GNE):c.-10G>A rs73449614 0.00894
NM_005476.7(GNE):c.1267A>G (p.Ile423Val) rs35638832 0.00066
NM_005476.7(GNE):c.165-18A>G rs374105190 0.00038
NM_005476.7(GNE):c.843C>T (p.His281=) rs138694766 0.00023
NM_005476.7(GNE):c.1934-36T>A rs375573973 0.00014
NM_005476.7(GNE):c.1070+36A>C rs377589477 0.00013
NM_005476.7(GNE):c.804G>A (p.Lys268=) rs141814943 0.00013
NM_005476.7(GNE):c.165-9C>T rs760509369 0.00008
NM_005476.7(GNE):c.1429C>T (p.Arg477Cys) rs551854437 0.00004
NM_005476.7(GNE):c.1908G>A (p.Ala636=) rs200812140 0.00004
NM_005476.7(GNE):c.903C>T (p.Ser301=) rs777440792 0.00002
NM_005476.7(GNE):c.1251G>A (p.Thr417=) rs758086020 0.00001
NM_001128227.2(GNE):c.-109_-107dup
NM_001128227.3(GNE):c.-27A>G
NM_005476.7(GNE):c.102C>T (p.Thr34=) rs147290887
NM_005476.7(GNE):c.1245C>A (p.Gly415=) rs140784655
NM_005476.7(GNE):c.1282-25C>T
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.2086G>T (p.Val696Leu) rs121908627
NM_005476.7(GNE):c.648T>G (p.Val216=) rs375728173

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