ClinVar Miner

List of variants in gene combination BSCL2, HNRNPUL2-BSCL2 studied for Hereditary spastic paraplegia

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=) rs6856 0.16571
NM_001122955.4(BSCL2):c.88-662C>A rs117597269 0.01291
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) rs145649423 0.00301
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu) rs144245125 0.00048
NM_001122955.4(BSCL2):c.1367G>A (p.Arg456His) rs149466797 0.00016
NM_001122955.4(BSCL2):c.844G>A (p.Ala282Thr) rs190842600 0.00014
NM_001122955.4(BSCL2):c.1234+7G>A rs200631909 0.00011
NM_001122955.4(BSCL2):c.588C>T (p.Cys196=) rs369806785 0.00011
NM_001122955.4(BSCL2):c.895G>A (p.Ala299Thr) rs141377075 0.00007
NM_001122955.4(BSCL2):c.1145C>T (p.Ser382Leu) rs149907021 0.00004
NM_001122955.4(BSCL2):c.1282C>T (p.Pro428Ser) rs369732238 0.00004
NM_001122955.4(BSCL2):c.846G>A (p.Ala282=) rs375554369 0.00004
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) rs137852972 0.00002
NM_001122955.4(BSCL2):c.1022G>A (p.Arg341Lys) rs144725547 0.00001
NM_001122955.4(BSCL2):c.1298C>T (p.Ala433Val) rs141657385 0.00001
NM_001122955.4(BSCL2):c.507G>A (p.Pro169=) rs145393127 0.00001
NM_001122955.4(BSCL2):c.1028A>G (p.Asn343Ser) rs1440384464
NM_001122955.4(BSCL2):c.1120G>C (p.Asp374His) rs778455259
NM_001122955.4(BSCL2):c.281A>T (p.Gln94Leu) rs2134740707
NM_001122955.4(BSCL2):c.359A>T (p.Tyr120Phe) rs370905417
NM_001122955.4(BSCL2):c.631-8C>T rs1196120956
NM_001122955.4(BSCL2):c.809G>T (p.Arg270Leu) rs763884653
NM_001122955.4(BSCL2):c.863+5G>A rs786205072
NM_001122955.4(BSCL2):c.88-663G>A rs117862461

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