List of variants in gene SPAST reported as likely benign by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 48

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HGVS	dbSNP	gnomAD frequency
NM_014946.4(SPAST):c.870+122A>G	rs72796859	0.03345
NM_014946.4(SPAST):c.1617-253G>A	rs143261316	0.01343
NM_014946.4(SPAST):c.*256A>G	rs6730400	0.01284
NM_014946.4(SPAST):c.1173+283dup	rs201829595	0.01233
NM_014946.4(SPAST):c.503-117A>T	rs190989715	0.01035
NM_014946.4(SPAST):c.416-240A>G	rs150788361	0.00887
NM_014946.4(SPAST):c.*51A>G	rs6730121	0.00739
NM_014946.4(SPAST):c.1616+220T>C	rs113051245	0.00737
NM_014946.4(SPAST):c.1728+16A>G	rs76494041	0.00731
NM_014946.4(SPAST):c.1536+266A>G	rs190377752	0.00695
NM_014946.4(SPAST):c.1174-208G>A	rs140628991	0.00629
NM_014946.4(SPAST):c.1005-128C>T	rs191664951	0.00555
NC_000002.12:g.32063480G>C	rs182965072	0.00554
NM_014946.4(SPAST):c.416-153C>T	rs79059251	0.00447
NM_014946.4(SPAST):c.870+60A>C	rs192431122	0.00271
NM_014946.4(SPAST):c.1493+18G>T	rs189961829	0.00213
NM_014946.4(SPAST):c.1687+29G>C	rs112410719	0.00204
NM_014946.4(SPAST):c.415+12G>A	rs539075273	0.00115
NM_014946.4(SPAST):c.1173+17A>C	rs200640366	0.00092
NM_014946.4(SPAST):c.-41C>T	rs374327295	0.00078
NM_014946.4(SPAST):c.134C>A (p.Pro45Gln)	rs121908517	0.00063
NM_014946.4(SPAST):c.243C>G (p.Arg81=)	rs146956762	0.00047
NM_014946.4(SPAST):c.1493+6G>A	rs115659052	0.00046
NM_014946.4(SPAST):c.1362G>A (p.Glu454=)	rs138849656	0.00035
NM_014946.4(SPAST):c.289C>A (p.Pro97Thr)	rs372005558	0.00029
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly)	rs142053576	0.00024
NM_014946.4(SPAST):c.1617-3C>T	rs201212542	0.00018
NM_014946.4(SPAST):c.1536+17G>T	rs201026422	0.00017
NM_014946.4(SPAST):c.712C>A (p.Pro238Thr)	rs140094231	0.00009
NM_014946.4(SPAST):c.415+17G>T	rs748969302	0.00005
NM_014946.4(SPAST):c.942G>A (p.Leu314=)	rs776121105	0.00005
NM_014946.4(SPAST):c.965G>A (p.Ser322Asn)	rs200329686	0.00005
NM_014946.4(SPAST):c.*11T>C	rs753913367	0.00002
NM_014946.4(SPAST):c.1077T>C (p.Ile359=)	rs570106557	0.00002
NM_014946.4(SPAST):c.1087C>T (p.Leu363=)	rs769858706	0.00001
NM_014946.4(SPAST):c.1321+9A>G	rs201349526	0.00001
NM_014946.4(SPAST):c.171G>C (p.Leu57=)	rs1057523187	0.00001
NM_014946.4(SPAST):c.816A>G (p.Leu272=)	rs1239753392	0.00001
NM_014946.4(SPAST):c.244_247del	rs201733642
NM_014946.4(SPAST):c.1098+19C>G	rs1573121844
NM_014946.4(SPAST):c.1728+73TG[6]	rs151273719
NM_014946.4(SPAST):c.327G>C (p.Pro109=)	rs1033468634
NM_014946.4(SPAST):c.416-31C>G	rs79533492
NM_014946.4(SPAST):c.416-66C>A	rs420731
NM_014946.4(SPAST):c.502+284ATT[11]	rs34216464
NM_014946.4(SPAST):c.586+9_586+12del	rs554544808
NM_014946.4(SPAST):c.68G>A (p.Arg23Lys)	rs558882317
NM_014946.4(SPAST):c.871-12G>A	rs764275621

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