ClinVar Miner

Variants in gene SPAST with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 30
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HGVS dbSNP gnomAD frequency
NM_014946.4(SPAST):c.1245+1G>A rs875989878 0.00001
NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln) rs863224923 0.00001
NM_014946.4(SPAST):c.1103T>C (p.Phe368Ser) rs1553316799
NM_014946.4(SPAST):c.1173+1G>A rs1060502226
NM_014946.4(SPAST):c.1174-1G>A rs1553317024
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu) rs1553317025
NM_014946.4(SPAST):c.1209_1212del (p.Phe403fs) rs1553317029
NM_014946.4(SPAST):c.1216A>G (p.Ile406Val) rs587777757
NM_014946.4(SPAST):c.1245+6T>G rs1553317050
NM_014946.4(SPAST):c.1276C>T (p.Leu426Phe) rs1060502227
NM_014946.4(SPAST):c.1348A>G (p.Arg450Gly) rs1553318223
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys) rs878854990
NM_014946.4(SPAST):c.1413+1_1413+2del rs1679558544
NM_014946.4(SPAST):c.1413+3_1413+6del rs570685843
NM_014946.4(SPAST):c.1413+6T>C rs1553318284
NM_014946.4(SPAST):c.1437_1438del (p.Arg479fs) rs864622268
NM_014946.4(SPAST):c.1484C>T (p.Ala495Val) rs1553318347
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014946.4(SPAST):c.1507C>T (p.Arg503Trp) rs864622162
NM_014946.4(SPAST):c.1553T>C (p.Leu518Pro) rs1553319290
NM_014946.4(SPAST):c.1616+1G>A rs1553319327
NM_014946.4(SPAST):c.1676G>A (p.Gly559Asp) rs864622179
NM_014946.4(SPAST):c.1775T>A (p.Ile592Lys) rs1553321237
NM_014946.4(SPAST):c.1841C>T (p.Thr614Ile) rs1573186691
NM_014946.4(SPAST):c.1849T>G (p.Ter617Glu) rs1553321270
NM_014946.4(SPAST):c.302C>A (p.Ser101Ter) rs746263735
NM_014946.4(SPAST):c.334G>T (p.Glu112Ter) rs1553394603
NM_014946.4(SPAST):c.67_85dup (p.Leu29fs) rs1676388641
NM_014946.4(SPAST):c.911dup (p.Thr305fs) rs1553315188
Single allele

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