ClinVar Miner

List of variants reported as uncertain significance by Paris Brain Institute, Inserm - ICM

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937 0.01445
NM_014946.4(SPAST):c.1735A>C (p.Asn579His) rs144594804 0.00031
NM_001244008.2(KIF1A):c.882+8G>A rs376552408 0.00019
NM_004820.5(CYP7B1):c.334C>T (p.Arg112Ter) rs200737038 0.00007
NM_001003800.2(BICD2):c.2515G>A (p.Gly839Arg) rs756910200 0.00004
NM_014846.4(WASHC5):c.2752C>T (p.Pro918Ser) rs367744328 0.00004
NM_014946.4(SPAST):c.1808C>T (p.Ala603Val) rs368801051 0.00004
NM_020944.3(GBA2):c.644G>A (p.Arg215His) rs748828496 0.00004
NM_144599.5(NIPA1):c.109G>A (p.Val37Met) rs772029587 0.00004
NM_001003800.2(BICD2):c.691C>T (p.Arg231Cys) rs754659441 0.00003
NM_001199753.2(CPT1C):c.2272G>A (p.Val758Met) rs757561909 0.00002
NM_004820.5(CYP7B1):c.1220T>C (p.Phe407Ser) rs769450032 0.00002
NM_020944.3(GBA2):c.940C>T (p.Arg314Cys) rs1000532303 0.00002
NM_001012301.4(ARSI):c.1006C>T (p.Arg336Ter) rs754812781 0.00001
NM_004820.5(CYP7B1):c.1355G>A (p.Arg452Gln) rs775806979 0.00001
NM_020944.3(GBA2):c.1905G>A (p.Thr635=) rs369401526 0.00001
NC_000002.11:g.(86479194_86481816)_(86565146_86564634)dup
NC_000002.11:g.(86491165_86509292)_(86509366_86565146)dup
NM_001199753.2(CPT1C):c.1325C>G (p.Ala442Gly) rs2123423148
NM_001244008.2(KIF1A):c.1498-3C>A rs1191854158
NM_001244008.2(KIF1A):c.2750_2751insTGAGGAGGAGGA (p.Glu916_Glu917insAspGluGluGlu) rs878988727
NM_001244008.2(KIF1A):c.865-24CT[2] rs140674901
NM_001371279.1(REEP1):c.145A>C (p.Thr49Pro) rs1433490355
NM_001371279.1(REEP1):c.419G>T (p.Gly140Val) rs2104054884
NM_001371279.1(REEP1):c.445C>T (p.Arg149Trp) rs771715116
NM_004733.4(SLC33A1):c.3G>A (p.Met1Ile) rs2108019676
NM_004820.5(CYP7B1):c.1163G>A (p.Arg388Gln) rs1394828774
NM_004984.4(KIF5A):c.1590del (p.Glu530fs) rs2140165538
NM_004984.4(KIF5A):c.340_357dup (p.Arg114_His119dup) rs2140159152
NM_004984.4(KIF5A):c.547G>T (p.Val183Leu) rs2140161239
NM_014946.4(SPAST):c.109G>T (p.Gly37Trp) rs771455657
NM_014946.4(SPAST):c.1174-14T>A rs2148746281
NM_014946.4(SPAST):c.1649C>T (p.Thr550Ile) rs1553319537
NM_014946.4(SPAST):c.1691_1702del
NM_014946.4(SPAST):c.1699G>A (p.Glu567Lys) rs2148762782
NM_014946.4(SPAST):c.1784G>A (p.Ser595Asn) rs2148769328
NM_014946.4(SPAST):c.352G>C (p.Val118Leu) rs1676413433
NM_014946.4(SPAST):c.493A>G (p.Thr165Ala) rs770141489
NM_014946.4(SPAST):c.818C>G (p.Ser273Cys) rs767688964
NM_014946.4(SPAST):c.830G>T (p.Gly277Val) rs1678761963
NM_014946.4(SPAST):c.936A>C (p.Lys312Asn) rs1465167029
NM_014946.4(SPAST):c.950T>C (p.Phe317Ser) rs759832933
NM_015346.4(ZFYVE26):c.1129del (p.Cys377fs) rs2140250002
NM_015346.4(ZFYVE26):c.7010A>G (p.Gln2337Arg) rs2140183205
NM_020944.3(GBA2):c.617T>C (p.Leu206Pro) rs1160145071
NM_025243.4(SLC19A3):c.150+1143C>G rs768902061

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