ClinVar Miner

List of variants reported as benign for fetal akinesia deformation sequence

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 115
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005592.4(MUSK):c.1586+26T>C rs484010 0.94561
NM_173660.5(DOK7):c.533-29A>G rs2006791 0.73240
NM_005055.5(RAPSN):c.456T>C (p.Tyr152=) rs7111873 0.61686
NM_005055.5(RAPSN):c.1143T>C (p.Pro381=) rs7126210 0.61595
NM_002532.6(NUP88):c.2172T>C (p.His724=) rs11209 0.44165
NM_002532.6(NUP88):c.2157A>G (p.Lys719=) rs1071705 0.42492
NM_002532.6(NUP88):c.1292-19G>A rs1806240 0.42485
NM_002532.6(NUP88):c.1836-38G>T rs748486 0.42467
NM_002532.6(NUP88):c.1389A>T (p.Pro463=) rs14231 0.42466
NM_002532.6(NUP88):c.1916+3C>T rs739768 0.42452
NM_002532.6(NUP88):c.1916+25T>G rs739767 0.42442
NM_002532.6(NUP88):c.468-38G>T rs1806263 0.29804
NM_173660.5(DOK7):c.332-18T>C rs2699425 0.28202
NM_173660.5(DOK7):c.1382G>A (p.Gly461Asp) rs9684786 0.20663
NM_173660.5(DOK7):c.1185C>T (p.Tyr395=) rs6850908 0.18472
NM_173660.5(DOK7):c.887A>G (p.Gln296Arg) rs6811423 0.18249
NM_173660.5(DOK7):c.1113A>C (p.Ser371=) rs6811856 0.18181
NM_173660.5(DOK7):c.1134G>A (p.Ala378=) rs6831659 0.17563
NM_005592.4(MUSK):c.402G>A (p.Glu134=) rs10980531 0.16445
NM_005592.4(MUSK):c.537C>T (p.Asn179=) rs41279051 0.13243
NM_173660.5(DOK7):c.101-11G>A rs2344209 0.13238
NM_005592.4(MUSK):c.475A>G (p.Ser159Gly) rs35176182 0.12204
NM_005055.5(RAPSN):c.193-15C>T rs45547231 0.11254
NM_005055.5(RAPSN):c.855G>A (p.Gln285=) rs45603036 0.10742
NM_005055.5(RAPSN):c.*57C>T rs45617144 0.10726
NM_005592.4(MUSK):c.1239G>A (p.Met413Ile) rs2274419 0.09566
NM_005055.5(RAPSN):c.172C>T (p.Arg58Cys) rs34312154 0.08810
NM_173660.5(DOK7):c.1243C>T (p.Pro415Ser) rs16844464 0.06297
NM_005592.4(MUSK):c.207-20T>C rs71501643 0.04718
NM_173660.5(DOK7):c.753G>A (p.Ala251=) rs59932476 0.04559
NM_173660.5(DOK7):c.589G>A (p.Asp197Asn) rs16844422 0.02362
NM_005592.4(MUSK):c.225C>T (p.Tyr75=) rs56130155 0.02312
NM_005592.4(MUSK):c.299C>T (p.Thr100Met) rs35142681 0.02176
NM_005055.5(RAPSN):c.*207C>A rs73459751 0.01891
NM_005055.5(RAPSN):c.241T>C (p.Phe81Leu) rs57878668 0.01874
NM_173660.5(DOK7):c.1351C>T (p.Arg451Trp) rs16844470 0.01433
NM_173660.5(DOK7):c.1317C>T (p.Ser439=) rs16844467 0.01424
NM_173660.5(DOK7):c.1143C>T (p.Pro381=) rs56769879 0.01415
NM_005055.5(RAPSN):c.614G>A (p.Arg205Gln) rs34625105 0.01344
NM_173660.5(DOK7):c.653-19A>C rs191981243 0.01231
NM_173660.5(DOK7):c.782G>A (p.Arg261His) rs16844460 0.01070
NM_173660.5(DOK7):c.332-4G>A rs199578351 0.00790
NM_005592.4(MUSK):c.1991A>G (p.Asn664Ser) rs55963442 0.00777
NM_005592.4(MUSK):c.1189T>C (p.Tyr397His) rs79843573 0.00659
NM_005055.5(RAPSN):c.193-14G>A rs114738594 0.00529
NM_173660.5(DOK7):c.1204C>T (p.Arg402Trp) rs149905649 0.00516
NM_173660.5(DOK7):c.134C>T (p.Ser45Leu) rs62272670 0.00470
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr) rs55980069 0.00399
NM_005055.5(RAPSN):c.162G>A (p.Ser54=) rs72905825 0.00337
NM_005592.4(MUSK):c.320G>A (p.Gly107Glu) rs55786136 0.00337
NM_005592.4(MUSK):c.80-8C>T rs199705752 0.00301
NM_005592.4(MUSK):c.1062G>A (p.Thr354=) rs139945437 0.00271
NM_173660.5(DOK7):c.1295G>A (p.Arg432Lys) rs145419117 0.00243
NM_173660.5(DOK7):c.904G>C (p.Ala302Pro) rs79063654 0.00237
NM_173660.5(DOK7):c.1469C>T (p.Ser490Leu) rs77513082 0.00232
NM_005055.5(RAPSN):c.913-15A>G rs185204384 0.00221
NM_005592.4(MUSK):c.2202C>T (p.Gly734=) rs143701488 0.00217
NM_005055.5(RAPSN):c.960G>A (p.Gly320=) rs145357531 0.00216
NM_173660.5(DOK7):c.919G>A (p.Ala307Thr) rs150415034 0.00210
NM_005592.4(MUSK):c.666T>C (p.Asn222=) rs56044404 0.00208
NM_005592.4(MUSK):c.914-14T>G rs146206123 0.00207
NM_173660.5(DOK7):c.1278C>T (p.Pro426=) rs139468087 0.00181
NM_173660.5(DOK7):c.921C>T (p.Ala307=) rs138148221 0.00170
NM_173660.5(DOK7):c.532+18G>A rs200487431 0.00153
NM_005592.4(MUSK):c.79+11G>A rs139516442 0.00138
NM_005592.4(MUSK):c.486+7G>C rs187497836 0.00128
NM_005592.4(MUSK):c.1361-12T>C rs115337040 0.00125
NM_173660.5(DOK7):c.831C>T (p.Ala277=) rs150549589 0.00113
NM_005592.4(MUSK):c.1941C>T (p.Val647=) rs200312379 0.00108
NM_005592.4(MUSK):c.1683G>A (p.Leu561=) rs192173278 0.00105
NM_005592.4(MUSK):c.1026G>A (p.Ala342=) rs200434321 0.00098
NM_005592.4(MUSK):c.358+20G>A rs144807641 0.00089
NM_173660.5(DOK7):c.1020C>T (p.Ile340=) rs370838856 0.00059
NM_173660.5(DOK7):c.1029C>T (p.Gly343=) rs375877997 0.00043
NM_005592.4(MUSK):c.2203G>A (p.Glu735Lys) rs138418494 0.00040
NM_005592.4(MUSK):c.2573G>A (p.Arg858His) rs34115159 0.00032
NM_005592.4(MUSK):c.500T>C (p.Ile167Thr) rs202045225 0.00029
NM_005592.4(MUSK):c.2331C>T (p.Asn777=) rs56394142 0.00025
NM_173660.5(DOK7):c.1091G>A (p.Arg364Gln) rs201304841 0.00019
NM_173660.5(DOK7):c.765C>A (p.Gly255=) rs138215484 0.00016
NM_173660.5(DOK7):c.189C>T (p.Cys63=) rs372989037 0.00011
NM_005592.4(MUSK):c.2532A>G (p.Ala844=) rs193214210 0.00009
NM_005592.4(MUSK):c.312T>C (p.Gly104=) rs56181115 0.00009
NM_173660.5(DOK7):c.1290G>A (p.Ala430=) rs538047872 0.00009
NM_005592.4(MUSK):c.1245G>C (p.Glu415Asp) rs558259191 0.00007
NM_005055.5(RAPSN):c.690+10C>T rs78293924 0.00006
NM_005055.5(RAPSN):c.363C>T (p.Leu121=) rs190548363 0.00005
NM_005592.4(MUSK):c.207-5T>C rs779359576 0.00004
NM_005592.4(MUSK):c.2283C>T (p.Asn761=) rs777419932 0.00004
NM_005592.4(MUSK):c.2286C>T (p.Asp762=) rs199832657 0.00004
NM_005592.4(MUSK):c.2599G>T (p.Val867Leu) rs370094071 0.00002
NM_005592.4(MUSK):c.2085A>C (p.Pro695=) rs772759899 0.00001
NM_005055.5(RAPSN):c.1166+19del rs760797252
NM_005055.5(RAPSN):c.1166+19dup
NM_005055.5(RAPSN):c.691-11del rs34729771
NM_005592.4(MUSK):c.1250C>T (p.Thr417Ile) rs538655454
NM_005592.4(MUSK):c.1778+25del
NM_005592.4(MUSK):c.1927+9dup rs555725730
NM_005592.4(MUSK):c.2485G>T (p.Val829Leu) rs578430
NM_005592.4(MUSK):c.486+22del
NM_005592.4(MUSK):c.920+25del rs147974075
NM_173660.5(DOK7):c.1305C>A (p.Gly435=) rs201894731
NM_173660.5(DOK7):c.220= (p.Leu74=) rs4325970
NM_173660.5(DOK7):c.54+31_54+33del rs71180187
NM_173660.5(DOK7):c.54+32_54+33del rs71180187
NM_173660.5(DOK7):c.54+32_54+33dup rs71180187
NM_173660.5(DOK7):c.54+33dup rs71180187
NM_173660.5(DOK7):c.546C>T (p.Phe182=) rs575721820
NM_173660.5(DOK7):c.55-12del rs1214849085
NM_173660.5(DOK7):c.653-20G>T rs185980724
NM_173660.5(DOK7):c.772+13dup
NM_173660.5(DOK7):c.781C>T (p.Arg261Cys) rs142821143
NM_173660.5(DOK7):c.909T>C (p.Ala303=)
NM_173660.5(DOK7):c.918C>T (p.Ala306=) rs141947707
NM_173660.5(DOK7):c.967C>T (p.Arg323Cys) rs150728781

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.