List of variants in gene SACS 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_014363.6(SACS):c.-501-343G>A	rs61946972	0.02791
NM_014363.6(SACS):c.346-47G>A	rs9510706	0.01795
NM_014363.6(SACS):c.7149C>T (p.Arg2383=)	rs17078608	0.01409
NM_014363.6(SACS):c.605-121G>C	rs74614483	0.01248
NM_014363.6(SACS):c.20+190T>G	rs114384992	0.01195
NM_014363.6(SACS):c.-501-219G>A	rs115681764	0.01082
NM_014363.6(SACS):c.-219A>G	rs74495070	0.01003
NM_014363.6(SACS):c.10305T>C (p.Ser3435=)	rs35670472	0.00986
NM_014363.6(SACS):c.12762C>T (p.Ser4254=)	rs11554397	0.00978
NM_014363.6(SACS):c.-303C>T	rs116758349	0.00909
NM_014363.6(SACS):c.-278G>A	rs78682319	0.00908
NM_014363.6(SACS):c.-39T>G	rs17078721	0.00873
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp)	rs35799469	0.00804
NM_014363.6(SACS):c.605-319A>C	rs116419735	0.00801
NM_014363.6(SACS):c.8345C>T (p.Ala2782Val)	rs61742500	0.00776
NM_014363.6(SACS):c.8344G>A (p.Ala2782Thr)	rs61742502	0.00775
NM_014363.6(SACS):c.458-213A>G	rs116246188	0.00751
NM_014363.6(SACS):c.8127A>C (p.Lys2709Asn)	rs78827970	0.00691
NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn)	rs35865691	0.00562
NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser)	rs78239814	0.00525
NM_014363.6(SACS):c.1593C>T (p.Ile531=)	rs113756713	0.00513
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)	rs146722795	0.00506
NM_014363.6(SACS):c.12597A>G (p.Pro4199=)	rs112630127	0.00451
NM_014363.6(SACS):c.11688G>A (p.Arg3896=)	rs116791509	0.00448
NM_014363.6(SACS):c.605-64T>C	rs541474163	0.00438
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)	rs111540787	0.00332
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)	rs34382952	0.00326
NM_014363.6(SACS):c.3129A>G (p.Ser1043=)	rs148878361	0.00292
NM_014363.6(SACS):c.9846A>G (p.Pro3282=)	rs61753111	0.00281
NM_014363.6(SACS):c.2721G>A (p.Leu907=)	rs140118958	0.00255
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val)	rs36061856	0.00198
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)	rs146451611	0.00197
NM_014363.6(SACS):c.7737G>A (p.Lys2579=)	rs139279302	0.00192
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)	rs140551762	0.00178
NM_014363.6(SACS):c.2983G>T (p.Val995Phe)	rs142967124	0.00134
NM_014363.6(SACS):c.12813T>G (p.Pro4271=)	rs146376949	0.00087
NM_014363.6(SACS):c.10008A>G (p.Lys3336=)	rs148971954	0.00031
NM_014363.6(SACS):c.2929C>T (p.Leu977=)	rs146296924	0.00029
NM_014363.6(SACS):c.10047A>G (p.Ser3349=)	rs138909482	0.00006
NM_014363.6(SACS):c.*20del	rs143617437
NM_014363.6(SACS):c.-501-78G>A	rs116525558
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu)	rs148286091
NM_014363.6(SACS):c.2186-116_2186-110dup	rs4068499
NM_014363.6(SACS):c.2186-92_2186-91del	rs4068499
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)	rs144267558
NM_014363.6(SACS):c.346-19del	rs200011804
NM_014363.6(SACS):c.4117_4118delinsCT (p.Ala1373Leu)	rs797045938
NM_014363.6(SACS):c.458-107_458-104del	rs568043080

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