ClinVar Miner

List of variants in gene GNE studied for Sialuria

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Total variants: 65
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HGVS dbSNP
NM_005476.5(GNE):c.-189C>T rs886063928
NM_005476.5(GNE):c.-216C>T rs886063929
NM_005476.5(GNE):c.1816+11delC rs886063925
NM_005476.7(GNE):c.*1012_*1013CA[10] rs10527967
NM_005476.7(GNE):c.*1012_*1013CA[14] rs10527967
NM_005476.7(GNE):c.*1012_*1013CA[15] rs10527967
NM_005476.7(GNE):c.*1012_*1013CA[16] rs10527967
NM_005476.7(GNE):c.*1012_*1013CA[22] rs10527967
NM_005476.7(GNE):c.*1021A>G rs10435799
NM_005476.7(GNE):c.*1054C>A rs7048468
NM_005476.7(GNE):c.*1204T>C rs183365416
NM_005476.7(GNE):c.*1575C>T rs761447556
NM_005476.7(GNE):c.*1635G>A rs190727651
NM_005476.7(GNE):c.*1694G>C rs886063918
NM_005476.7(GNE):c.*1728C>T rs41277097
NM_005476.7(GNE):c.*1781G>A rs16933086
NM_005476.7(GNE):c.*1826G>C rs7044157
NM_005476.7(GNE):c.*2056C>T rs183641957
NM_005476.7(GNE):c.*208T>C rs771508931
NM_005476.7(GNE):c.*2156G>C rs2741725
NM_005476.7(GNE):c.*2196dup rs199874473
NM_005476.7(GNE):c.*2211C>G rs150978860
NM_005476.7(GNE):c.*2269C>T rs575299401
NM_005476.7(GNE):c.*2391C>T rs1043313
NM_005476.7(GNE):c.*2410G>C rs886063917
NM_005476.7(GNE):c.*2415T>A rs143569888
NM_005476.7(GNE):c.*2448A>G rs757287887
NM_005476.7(GNE):c.*2576A>G rs531142218
NM_005476.7(GNE):c.*2679G>A rs566044462
NM_005476.7(GNE):c.*2766T>C rs886063916
NM_005476.7(GNE):c.*277_*279ATA[1] rs140089561
NM_005476.7(GNE):c.*2789G>A rs140396892
NM_005476.7(GNE):c.*2847T>C rs886063915
NM_005476.7(GNE):c.*2877T>C rs886063914
NM_005476.7(GNE):c.*2905_*2906del rs886063913
NM_005476.7(GNE):c.*30C>G rs540975887
NM_005476.7(GNE):c.*446C>T rs886063924
NM_005476.7(GNE):c.*513G>A rs886063923
NM_005476.7(GNE):c.*554G>A rs755277976
NM_005476.7(GNE):c.*583G>A rs182741472
NM_005476.7(GNE):c.*630C>T rs150102934
NM_005476.7(GNE):c.*691A>T rs10972791
NM_005476.7(GNE):c.*692_*694AAT[10] rs113316798
NM_005476.7(GNE):c.*692_*694AAT[12] rs113316798
NM_005476.7(GNE):c.*692_*694AAT[13] rs113316798
NM_005476.7(GNE):c.*692_*694AAT[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.*74G>A rs16933089
NM_005476.7(GNE):c.*936C>T rs56974443
NM_005476.7(GNE):c.*937G>A rs191229205
NM_005476.7(GNE):c.-152G>T rs142004500
NM_005476.7(GNE):c.-65G>A rs138897916
NM_005476.7(GNE):c.1267A>G (p.Ile423Val) rs35638832
NM_005476.7(GNE):c.1281+6A>T rs201025841
NM_005476.7(GNE):c.1770C>T (p.Tyr590=) rs111302956
NM_005476.7(GNE):c.1872G>A (p.Ala624=) rs145361930
NM_005476.7(GNE):c.2086G>T (p.Val696Leu) rs121908627
NM_005476.7(GNE):c.315T>C (p.Asp105=) rs886063927
NM_005476.7(GNE):c.600C>T (p.Ile200=) rs7047950
NM_005476.7(GNE):c.769+4A>G rs886063926
NM_005476.7(GNE):c.788G>T (p.Arg263Leu) rs121908623
NM_005476.7(GNE):c.796C>T (p.Arg266Trp) rs121908621
NM_005476.7(GNE):c.797G>A (p.Arg266Gln) rs121908622

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