ClinVar Miner

List of variants in gene RAPSN reported as benign for Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11

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Total variants: 16
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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_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.172C>T (p.Arg58Cys) rs34312154 0.08810
NM_005055.5(RAPSN):c.241T>C (p.Phe81Leu) rs57878668 0.01874
NM_005055.5(RAPSN):c.614G>A (p.Arg205Gln) rs34625105 0.01344
NM_005055.5(RAPSN):c.193-14G>A rs114738594 0.00529
NM_005055.5(RAPSN):c.162G>A (p.Ser54=) rs72905825 0.00337
NM_005055.5(RAPSN):c.913-15A>G rs185204384 0.00221
NM_005055.5(RAPSN):c.960G>A (p.Gly320=) rs145357531 0.00216
NM_005055.5(RAPSN):c.690+10C>T rs78293924 0.00006
NM_005055.5(RAPSN):c.363C>T (p.Leu121=) rs190548363 0.00005
NM_005055.5(RAPSN):c.1166+19del rs760797252
NM_005055.5(RAPSN):c.691-11del rs34729771

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