ClinVar Miner

List of variants in gene RAPSN reported as pathogenic for fetal akinesia deformation sequence

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 77
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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.(?_47455479)_(47460424_?)del
NC_000011.9:g.(?_47459516)_(47459608_?)del
NC_000011.9:g.(?_47459516)_(47464376_?)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_005055.5(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.416T>C (p.Phe139Ser) rs121909256
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.566C>T (p.Ala189Val) rs121909257
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.690+1G>A
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.912+1G>A
NM_005055.5(RAPSN):c.966+1_966+2delinsAG rs2153308170
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

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