ClinVar Miner

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

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 15
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HGVS dbSNP gnomAD frequency
NM_014946.4(SPAST):c.879G>A (p.Pro293=) rs145264166 0.00943
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu) rs121908515 0.00521
NM_014946.4(SPAST):c.1493+18G>T rs189961829 0.00213
NM_014946.4(SPAST):c.484G>A (p.Val162Ile) rs141944844 0.00192
NM_014946.4(SPAST):c.415+12G>A rs539075273 0.00115
NM_014946.4(SPAST):c.683-9C>T rs202209866 0.00056
NM_014946.4(SPAST):c.1493+6G>A rs115659052 0.00046
NM_014946.4(SPAST):c.1735A>C (p.Asn579His) rs144594804 0.00031
NM_014946.4(SPAST):c.289C>A (p.Pro97Thr) rs372005558 0.00029
NM_014946.4(SPAST):c.1593A>G (p.Gln531=) rs754291673 0.00023
NM_014946.4(SPAST):c.828T>C (p.Ser276=) rs77525846 0.00002
NM_014946.4(SPAST):c.878C>T (p.Pro293Leu) rs773193617 0.00002
NM_014946.4(SPAST):c.137A>G (p.His46Arg) rs778952334 0.00001
NM_014946.4(SPAST):c.129G>C (p.Glu43Asp) rs542793579
NM_014946.4(SPAST):c.586+9_586+12del rs554544808

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