ClinVar Miner

List of variants in gene GNE reported as uncertain significance for autosomal recessive distal myopathy

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 99
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HGVS dbSNP
NC_000009.11:g.(?_36276871)_(36277059_?)dup
NM_001128227.2(GNE):c.862+4dupA rs756817842
NM_001128227.3(GNE):c.23A>G (p.Gln8Arg) rs765794816
NM_001128227.3(GNE):c.3G>A (p.Met1Ile) rs1554668704
NM_001128227.3(GNE):c.4G>A (p.Glu2Lys) rs1403279875
NM_001128227.3(GNE):c.52-9070C>T rs886063928
NM_001128227.3(GNE):c.52-9097C>T rs886063929
NM_001128227.3(GNE):c.78A>T (p.Lys26Asn)
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter) rs794727279
NM_001128227.3(GNE):c.82_83dup (p.Asn28fs) rs1554664095
NM_001190388.1(GNE):c.2T>G (p.Met1Arg) rs757093701
NM_001190388.1(GNE):c.41_42del (p.Lys14fs) rs751222162
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.*1575C>T rs761447556
NM_005476.7(GNE):c.*1694G>C rs886063918
NM_005476.7(GNE):c.*1728C>T rs41277097
NM_005476.7(GNE):c.*208T>C rs771508931
NM_005476.7(GNE):c.*2410G>C rs886063917
NM_005476.7(GNE):c.*2448A>G rs757287887
NM_005476.7(GNE):c.*2679G>A rs566044462
NM_005476.7(GNE):c.*2766T>C rs886063916
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.*446C>T rs886063924
NM_005476.7(GNE):c.*513G>A rs886063923
NM_005476.7(GNE):c.*554G>A rs755277976
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.-42-3C>T
NM_005476.7(GNE):c.1039_1042delinsA (p.Leu347_His348delinsAsn) rs1554660095
NM_005476.7(GNE):c.1057A>G (p.Lys353Glu) rs1554660090
NM_005476.7(GNE):c.1081T>C (p.Tyr361His) rs1192630467
NM_005476.7(GNE):c.1099G>A (p.Val367Ile) rs1554659769
NM_005476.7(GNE):c.1234G>A (p.Val412Ile) rs369714039
NM_005476.7(GNE):c.1246G>A (p.Gly416Arg) rs866841518
NM_005476.7(GNE):c.1267A>G (p.Ile423Val) rs35638832
NM_005476.7(GNE):c.1268T>G (p.Ile423Arg) rs1313840587
NM_005476.7(GNE):c.1276A>G (p.Met426Val) rs750404513
NM_005476.7(GNE):c.127G>A (p.Val43Ile) rs1223454836
NM_005476.7(GNE):c.1281+6A>T rs201025841
NM_005476.7(GNE):c.1281G>A (p.Lys427=) rs1554659670
NM_005476.7(GNE):c.1301A>G (p.Tyr434Cys) rs1447770049
NM_005476.7(GNE):c.1304C>T (p.Thr435Ile) rs1563930778
NM_005476.7(GNE):c.1327G>A (p.Glu443Lys) rs1337925138
NM_005476.7(GNE):c.1332G>C (p.Glu444Asp) rs1554659040
NM_005476.7(GNE):c.1354A>G (p.Met452Val) rs746051210
NM_005476.7(GNE):c.1442G>A (p.Arg481Gln) rs138357804
NM_005476.7(GNE):c.1475T>A (p.Ile492Asn) rs1563930321
NM_005476.7(GNE):c.1532C>T (p.Pro511Leu) rs1414079876
NM_005476.7(GNE):c.1565C>T (p.Ala522Val) rs1563930123
NM_005476.7(GNE):c.1567C>A (p.Leu523Met) rs1554658905
NM_005476.7(GNE):c.1567C>G (p.Leu523Val) rs1554658905
NM_005476.7(GNE):c.1583T>G (p.Phe528Cys) rs986773986
NM_005476.7(GNE):c.1639G>A (p.Gly547Ser) rs1306768272
NM_005476.7(GNE):c.1639G>T (p.Gly547Cys) rs1306768272
NM_005476.7(GNE):c.1651A>G (p.Ile551Val) rs754313408
NM_005476.7(GNE):c.1675G>A (p.Gly559Arg) rs762009737
NM_005476.7(GNE):c.1807C>T (p.Leu603Phe) rs372732220
NM_005476.7(GNE):c.1816+11del rs886063925
NM_005476.7(GNE):c.1816+4G>C rs760700813
NM_005476.7(GNE):c.1871C>T (p.Ala624Val) rs200278654
NM_005476.7(GNE):c.1907C>T (p.Ala636Val) rs756488394
NM_005476.7(GNE):c.1933+3G>A
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg) rs776384541
NM_005476.7(GNE):c.2008G>T (p.Val670Phe)
NM_005476.7(GNE):c.2044G>A (p.Val682Ile)
NM_005476.7(GNE):c.2086G>T (p.Val696Leu) rs121908627
NM_005476.7(GNE):c.2088_2090GGT[1] (p.Val698del) rs1554657956
NM_005476.7(GNE):c.2096C>T (p.Ser699Leu) rs552758282
NM_005476.7(GNE):c.2097G>A (p.Ser699=) rs200490682
NM_005476.7(GNE):c.211A>T (p.Arg71Trp) rs886044539
NM_005476.7(GNE):c.2T>C (p.Met1Thr) rs1554664086
NM_005476.7(GNE):c.301C>T (p.Arg101Cys) rs148523065
NM_005476.7(GNE):c.315T>C (p.Asp105=) rs886063927
NM_005476.7(GNE):c.466T>C (p.Tyr156His) rs794727505
NM_005476.7(GNE):c.598A>T (p.Ile200Phe) rs369328625
NM_005476.7(GNE):c.607A>G (p.Met203Val) rs1269845468
NM_005476.7(GNE):c.612G>A (p.Trp204Ter) rs786204476
NM_005476.7(GNE):c.620_622ATG[1] (p.Asp208del) rs1554661574
NM_005476.7(GNE):c.673G>A (p.Asp225Asn) rs121908630
NM_005476.7(GNE):c.6_8GAA[1] (p.Lys3del) rs1554664082
NM_005476.7(GNE):c.711G>A (p.Leu237=) rs724159957
NM_005476.7(GNE):c.748C>A (p.Leu250Met) rs886042585
NM_005476.7(GNE):c.769+4A>G rs886063926
NM_005476.7(GNE):c.851T>C (p.Phe284Ser) rs1563938450
NM_005476.7(GNE):c.910G>A (p.Gly304Arg) rs755743750
NM_005476.7(GNE):c.952C>G (p.Leu318Val) rs1554661032
NM_005476.7(GNE):c.992T>G (p.Val331Gly) rs1554660119

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