ClinVar Miner

Variants in gene SPAST with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 12
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HGVS dbSNP gnomAD frequency
NM_014946.4(SPAST):c.134C>A (p.Pro45Gln) rs121908517 0.00063
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly) rs142053576 0.00024
NM_014946.4(SPAST):c.30G>A (p.Lys10=) rs768928614 0.00005
NM_014946.4(SPAST):c.441A>G (p.Glu147=) rs375027118 0.00004
NM_014946.4(SPAST):c.*11T>C rs753913367 0.00002
NM_014946.4(SPAST):c.878C>T (p.Pro293Leu) rs773193617 0.00002
NM_014946.4(SPAST):c.626C>T (p.Thr209Met) rs537855621 0.00001
NM_014946.4(SPAST):c.*372TTGT[2] rs756347073
NM_014946.4(SPAST):c.129G>C (p.Glu43Asp) rs542793579
NM_014946.4(SPAST):c.1744T>C (p.Leu582=) rs886055962
NM_014946.4(SPAST):c.519A>G (p.Arg173=) rs1677627735
NM_014946.4(SPAST):c.586+9_586+12del rs554544808

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