ClinVar Miner

List of variants in gene SPAST reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_014946.4(SPAST):c.1174-289T>C rs216540 0.99008
NM_014946.4(SPAST):c.871-289C>G rs6543650 0.97619
NM_014946.4(SPAST):c.1617-105T>C rs2365556 0.96588
NM_014946.4(SPAST):c.503-118A>T rs469305 0.43127
NM_014946.4(SPAST):c.682+175G>A rs7605242 0.41614
NM_014946.4(SPAST):c.1098+118A>G rs12617289 0.41298
NM_014946.4(SPAST):c.682+112T>C rs7566162 0.40879
NM_014946.4(SPAST):c.1098+127A>G rs12617290 0.39919
NM_014946.4(SPAST):c.1687+268C>T rs7592356 0.36684
NM_014946.4(SPAST):c.1246-150_1246-149insC rs11392886 0.36485
NM_014946.4(SPAST):c.1688-191A>T rs7572964 0.35855
NM_014946.4(SPAST):c.1174-161G>A rs2294176 0.35723
NM_014946.4(SPAST):c.1687+182C>A rs7592239 0.34998
NM_014946.4(SPAST):c.683-146C>T rs11691939 0.26750
NM_014946.4(SPAST):c.1174-153A>C rs2294178 0.26640
NM_014946.4(SPAST):c.*98A>G rs56272862 0.04503
NM_014946.4(SPAST):c.1174-154G>A rs2294177 0.03210
NM_014946.4(SPAST):c.416-268A>T rs79943597 0.02398
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.865C>T (p.His289Tyr) rs74688377 0.00210
NM_014946.4(SPAST):c.484G>A (p.Val162Ile) rs141944844 0.00192
NM_014946.4(SPAST):c.683-9C>T rs202209866 0.00056
NM_014946.4(SPAST):c.1413+43TA[4] rs10627985
NM_014946.4(SPAST):c.502+284ATT[9] rs34216464
NM_014946.4(SPAST):c.502+53T>C rs7561519
NM_014946.4(SPAST):c.502+70TATT[6] rs202142071
NM_014946.4(SPAST):c.870+131_870+132insT rs1448818175
NM_014946.4(SPAST):c.870+149_870+150dup rs11399176
NM_014946.4(SPAST):c.870+150dup rs11399176
NM_014946.4(SPAST):c.870+283C>T rs35245684

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