ClinVar Miner

List of variants studied for autosomal recessive distal myopathy by Counsyl

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 90
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HGVS dbSNP
NM_001128227.2(GNE):c.1376delG (p.Gly459Valfs) rs1057516705
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.79C>T (p.Arg27Ter) rs794727279
NM_001128227.3(GNE):c.82_83dup (p.Asn28fs) rs1554664095
NM_001128227.3(GNE):c.88C>T (p.Gln30Ter) rs1554664090
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.1039_1042delinsA (p.Leu347_His348delinsAsn) rs1554660095
NM_005476.7(GNE):c.1057A>G (p.Lys353Glu) rs1554660090
NM_005476.7(GNE):c.1099G>A (p.Val367Ile) rs1554659769
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr) rs199877522
NM_005476.7(GNE):c.1158del (p.Lys386fs) rs1057516275
NM_005476.7(GNE):c.1246G>A (p.Gly416Arg) rs866841518
NM_005476.7(GNE):c.1258C>T (p.Arg420Ter) rs747199032
NM_005476.7(GNE):c.1262T>C (p.Val421Ala) rs1057516364
NM_005476.7(GNE):c.1268T>G (p.Ile423Arg) rs1313840587
NM_005476.7(GNE):c.127G>A (p.Val43Ile) rs1223454836
NM_005476.7(GNE):c.1301A>G (p.Tyr434Cys) rs1447770049
NM_005476.7(GNE):c.1306C>T (p.Gln436Ter) rs786204558
NM_005476.7(GNE):c.1354A>G (p.Met452Val) rs746051210
NM_005476.7(GNE):c.1411+1del rs1057516597
NM_005476.7(GNE):c.1417del (p.Ser473fs) rs1057516965
NM_005476.7(GNE):c.1485G>A (p.Trp495Ter) rs1212623980
NM_005476.7(GNE):c.1523T>C (p.Leu508Ser) rs1057516798
NM_005476.7(GNE):c.1525C>T (p.His509Tyr) rs754892377
NM_005476.7(GNE):c.1532C>T (p.Pro511Leu) rs1414079876
NM_005476.7(GNE):c.1543_1544del (p.Asp515fs) rs1057516657
NM_005476.7(GNE):c.1556A>G (p.Asn519Ser) rs1554658910
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.1571C>T (p.Ala524Val) rs764698870
NM_005476.7(GNE):c.1583T>G (p.Phe528Cys) rs986773986
NM_005476.7(GNE):c.1609_1616del (p.Phe537fs) rs1057516340
NM_005476.7(GNE):c.1675G>A (p.Gly559Arg) rs762009737
NM_005476.7(GNE):c.1686del (p.Cys563fs) rs886044449
NM_005476.7(GNE):c.1714G>C (p.Val572Leu) rs121908632
NM_005476.7(GNE):c.1740del (p.Cys581fs) rs1554658453
NM_005476.7(GNE):c.175C>T (p.Arg59Ter) rs745517517
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr) rs748949603
NM_005476.7(GNE):c.1781del (p.Met594fs) rs1057517157
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr) rs387906347
NM_005476.7(GNE):c.1807C>T (p.Leu603Phe) rs372732220
NM_005476.7(GNE):c.1844C>G (p.Ser615Ter) rs757523840
NM_005476.7(GNE):c.1892C>T (p.Ala631Val) rs62541771
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.2088_2090GGT[1] (p.Val698del) rs1554657956
NM_005476.7(GNE):c.211A>T (p.Arg71Trp) rs886044539
NM_005476.7(GNE):c.2122G>A (p.Gly708Ser) rs1554657922
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) rs28937594
NM_005476.7(GNE):c.22C>T (p.Arg8Ter) rs766420673
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.31C>T (p.Arg11Trp) rs769716748
NM_005476.7(GNE):c.385C>T (p.Arg129Ter) rs372872777
NM_005476.7(GNE):c.386G>A (p.Arg129Gln) rs748704459
NM_005476.7(GNE):c.388del (p.Ile130fs) rs1423445315
NM_005476.7(GNE):c.38G>C (p.Cys13Ser) rs1209266607
NM_005476.7(GNE):c.435_438del (p.Ile146fs) rs1057516915
NM_005476.7(GNE):c.466T>C (p.Tyr156His) rs794727505
NM_005476.7(GNE):c.484C>T (p.Arg162Cys) rs769215411
NM_005476.7(GNE):c.4G>T (p.Glu2Ter) rs886044514
NM_005476.7(GNE):c.527A>T (p.Asp176Val) rs139425890
NM_005476.7(GNE):c.529C>T (p.Arg177Cys) rs539332585
NM_005476.7(GNE):c.572C>G (p.Ser191Ter) rs1357906793
NM_005476.7(GNE):c.598A>T (p.Ile200Phe) rs369328625
NM_005476.7(GNE):c.612G>A (p.Trp204Ter) rs786204476
NM_005476.7(GNE):c.616+1del rs1554663295
NM_005476.7(GNE):c.620_622ATG[1] (p.Asp208del) rs1554661574
NM_005476.7(GNE):c.630dup (p.Ser211fs) rs1554661569
NM_005476.7(GNE):c.636dup (p.Asp213fs) rs1057517094
NM_005476.7(GNE):c.640del (p.Tyr214fs) rs1554661561
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939
NM_005476.7(GNE):c.655C>T (p.Gln219Ter) rs1057516906
NM_005476.7(GNE):c.673G>A (p.Asp225Asn) rs121908630
NM_005476.7(GNE):c.680dup (p.His228fs) rs1554661552
NM_005476.7(GNE):c.6_8GAA[1] (p.Lys3del) rs1554664082
NM_005476.7(GNE):c.722T>G (p.Ile241Ser) rs759945787
NM_005476.7(GNE):c.736C>T (p.Arg246Trp) rs773729410
NM_005476.7(GNE):c.737G>A (p.Arg246Gln) rs121908629
NM_005476.7(GNE):c.748C>A (p.Leu250Met) rs886042585
NM_005476.7(GNE):c.80C>T (p.Pro27Leu) rs1236647498
NM_005476.7(GNE):c.829C>T (p.Arg277Cys) rs762106720
NM_005476.7(GNE):c.856C>T (p.Gln286Ter) rs1057516746
NM_005476.7(GNE):c.893T>C (p.Ile298Thr) rs757091387
NM_005476.7(GNE):c.910G>A (p.Gly304Arg) rs755743750
NM_005476.7(GNE):c.916C>T (p.Arg306Ter) rs1057516374
NM_005476.7(GNE):c.992T>G (p.Val331Gly) rs1554660119

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