ClinVar Miner

List of variants reported as pathogenic for Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 71
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_005055.5(RAPSN):c.133G>A (p.Val45Met) rs121909254 0.00006
NM_005055.5(RAPSN):c.-210A>G rs786200905 0.00002
NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys) rs104894294 0.00002
NM_005055.5(RAPSN):c.41T>C (p.Leu14Pro) rs104894300 0.00001
NM_005055.5(RAPSN):c.425C>A (p.Ala142Asp) rs368695664 0.00001
NM_005055.5(RAPSN):c.439G>A (p.Glu147Lys) rs560525099 0.00001
NM_005055.5(RAPSN):c.484G>A (p.Glu162Lys) rs121909255 0.00001
NM_005055.5(RAPSN):c.493G>A (p.Val165Met) rs761584017 0.00001
NM_005055.5(RAPSN):c.531+1G>T rs1421354085 0.00001
NM_005055.5(RAPSN):c.61C>T (p.Gln21Ter) rs1595903667 0.00001
NM_005055.5(RAPSN):c.737C>T (p.Ala246Val) rs559933584 0.00001
NM_005055.5(RAPSN):c.7C>T (p.Gln3Ter) rs2076433607 0.00001
NC_000011.10:g.(?_47437955)_(47438951_?)del
NC_000011.10:g.(?_47437965)_(47438941_?)del
NC_000011.10:g.(?_47447802)_(47449175_?)del
NC_000011.9:g.(?_46880534)_(47470516_?)del
NC_000011.9:g.(?_47459516)_(47459608_?)del
NC_000011.9:g.(?_47460273)_(47460492_?)del
NC_000011.9:g.(?_47462700)_(47463483_?)del
NC_000011.9:g.(?_47467519)_(47469609_?)del
NC_000011.9:g.(?_47469354)_(47470726_?)del
NC_000011.9:g.(?_47469557)_(47478800_?)del
NM_005055.4(RAPSN):c.-199C>G rs886037842
NM_005055.5(RAPSN):c.1029_1045del (p.Glu344fs) rs765096923
NM_005055.5(RAPSN):c.1065C>A (p.Cys355Ter) rs763094966
NM_005055.5(RAPSN):c.1116GAA[1] (p.Lys373del) rs759488854
NM_005055.5(RAPSN):c.1166+1G>C
NM_005055.5(RAPSN):c.1166+1G>T
NM_005055.5(RAPSN):c.1166+2T>G
NM_005055.5(RAPSN):c.1168del (p.Cys390fs)
NM_005055.5(RAPSN):c.1177_1178del (p.Asn393fs) rs1555142142
NM_005055.5(RAPSN):c.1185del (p.Thr396fs) rs2153306243
NM_005055.5(RAPSN):c.11dup (p.Asp4fs) rs1565689206
NM_005055.5(RAPSN):c.177C>A (p.Tyr59Ter)
NM_005055.5(RAPSN):c.192+2T>G
NM_005055.5(RAPSN):c.1A>G (p.Met1Val)
NM_005055.5(RAPSN):c.210del (p.Ile70fs) rs760999895
NM_005055.5(RAPSN):c.22C>T (p.Gln8Ter)
NM_005055.5(RAPSN):c.272G>T (p.Arg91Leu) rs375218091
NM_005055.5(RAPSN):c.280del (p.Glu94fs)
NM_005055.5(RAPSN):c.288del (p.Cys97fs)
NM_005055.5(RAPSN):c.291C>A (p.Cys97Ter) rs749287203
NM_005055.5(RAPSN):c.297del (p.His100fs) rs2153311310
NM_005055.5(RAPSN):c.300_319del (p.His100fs) rs2153311290
NM_005055.5(RAPSN):c.318C>A (p.Cys106Ter) rs2076423585
NM_005055.5(RAPSN):c.358C>T (p.Gln120Ter) rs2076422949
NM_005055.5(RAPSN):c.358del (p.Gln120fs)
NM_005055.5(RAPSN):c.370C>T (p.Gln124Ter) rs1479498379
NM_005055.5(RAPSN):c.3G>T (p.Met1Ile)
NM_005055.5(RAPSN):c.418C>T (p.Gln140Ter) rs2153311231
NM_005055.5(RAPSN):c.424_425insTGTCTCCTCTATATAAATGCGTAGGGGTTTTAGTTAAATGTCCTTTGAAGTATACTTGAGGAGGGTGACGGGCGGTGTGTACGCGCTTCAGGGCCCTGTTCAACTAAGCACTCTACCCTGTTCAACTAAG (p.Ala142delinsValSerProLeuTyrLysCysValGlyValLeuValLysCysProLeuLysTyrThrTer)
NM_005055.5(RAPSN):c.46dup (p.Leu16fs) rs2153311780
NM_005055.5(RAPSN):c.490C>G (p.Arg164Gly) rs104894294
NM_005055.5(RAPSN):c.531+1G>A
NM_005055.5(RAPSN):c.537C>A (p.Tyr179Ter) rs1015604630
NM_005055.5(RAPSN):c.546_547dup (p.Leu183fs) rs2153309143
NM_005055.5(RAPSN):c.549_553dup (p.Phe185fs) rs786200904
NM_005055.5(RAPSN):c.599G>A (p.Trp200Ter) rs1595899478
NM_005055.5(RAPSN):c.652_655dup (p.Leu219fs)
NM_005055.5(RAPSN):c.679G>T (p.Glu227Ter) rs2153309050
NM_005055.5(RAPSN):c.712C>T (p.Gln238Ter) rs2076368388
NM_005055.5(RAPSN):c.733C>T (p.Gln245Ter)
NM_005055.5(RAPSN):c.79C>T (p.Gln27Ter)
NM_005055.5(RAPSN):c.838G>T (p.Gly280Ter) rs1262674788
NM_005055.5(RAPSN):c.853C>T (p.Gln285Ter) rs1555142603
NM_005055.5(RAPSN):c.885C>A (p.Cys295Ter)
NM_005055.5(RAPSN):c.888G>A (p.Trp296Ter)
NM_005055.5(RAPSN):c.973C>T (p.Gln325Ter)
NM_005055.5(RAPSN):c.990_993del (p.His329_Cys330insTer)
NM_005055.5(RAPSN):c.997G>T (p.Glu333Ter) rs201947904

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.