ClinVar Miner

List of variants reported as benign for fetal akinesia deformation sequence by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 102
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HGVS dbSNP gnomAD frequency
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_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_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.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_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

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