ClinVar Miner

List of variants in gene RAPSN studied for Congenital myasthenic syndrome 11; Fetal akinesia deformation sequence 2

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_005055.5(RAPSN):c.855G>A (p.Gln285=) rs45603036 0.10742
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_005055.5(RAPSN):c.412G>A (p.Val138Ile) rs35810986 0.00065
NM_005055.5(RAPSN):c.-23G>A rs370356548 0.00011
NM_005055.5(RAPSN):c.831C>T (p.Thr277=) rs148078235 0.00010
NM_005055.5(RAPSN):c.133G>A (p.Val45Met) rs121909254 0.00006
NM_005055.5(RAPSN):c.1066G>A (p.Val356Met) rs570140663 0.00005
NM_005055.5(RAPSN):c.215C>T (p.Thr72Met) rs770633491 0.00005
NM_005055.5(RAPSN):c.364G>A (p.Gly122Arg) rs150756111 0.00005
NM_005055.5(RAPSN):c.1090G>A (p.Gly364Ser) rs372865599 0.00004
NM_005055.5(RAPSN):c.140G>A (p.Gly47Asp) rs201725858 0.00004
NM_005055.5(RAPSN):c.889G>A (p.Val297Met) rs369570812 0.00004
NM_005055.5(RAPSN):c.-210A>G rs786200905 0.00002
NM_005055.5(RAPSN):c.178A>C (p.Lys60Gln) rs1380619456 0.00002
NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys) rs104894294 0.00002
NM_005055.5(RAPSN):c.1070dup (p.Glu358fs) rs1475015182 0.00001
NM_005055.5(RAPSN):c.1221G>A (p.Met407Ile) rs1272838959 0.00001
NM_005055.5(RAPSN):c.271C>T (p.Arg91Cys) rs767507908 0.00001
NM_005055.5(RAPSN):c.425C>A (p.Ala142Asp) rs368695664 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.649C>T (p.Arg217Cys) rs766845970 0.00001
NM_005055.5(RAPSN):c.737C>T (p.Ala246Val) rs559933584 0.00001
NM_005055.5(RAPSN):c.847C>G (p.Leu283Val) rs761730497 0.00001
NM_005055.5(RAPSN):c.985C>T (p.His329Tyr) rs772147307 0.00001
NM_005055.5(RAPSN):c.1083_1084dup (p.Tyr362fs) rs786205885
NM_005055.5(RAPSN):c.1116GAA[1] (p.Lys373del) rs759488854
NM_005055.5(RAPSN):c.1172T>C (p.Leu391Pro)
NM_005055.5(RAPSN):c.1177_1178del (p.Asn393fs) rs1555142142
NM_005055.5(RAPSN):c.186dup (p.Leu63fs)
NM_005055.5(RAPSN):c.193-5_201del
NM_005055.5(RAPSN):c.288del (p.Cys97fs)
NM_005055.5(RAPSN):c.291C>A (p.Cys97Ter) rs749287203
NM_005055.5(RAPSN):c.346del (p.Arg116fs)
NM_005055.5(RAPSN):c.430dup (p.Glu144fs)
NM_005055.5(RAPSN):c.491G>A (p.Arg164His)
NM_005055.5(RAPSN):c.523C>T (p.Gln175Ter)
NM_005055.5(RAPSN):c.600G>C (p.Trp200Cys)
NM_005055.5(RAPSN):c.679G>T (p.Glu227Ter) rs2153309050
NM_005055.5(RAPSN):c.691-2A>G
NM_005055.5(RAPSN):c.757G>A (p.Ala253Thr) rs2153308622
NM_005055.5(RAPSN):c.997G>T (p.Glu333Ter) rs201947904

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