ClinVar Miner

List of variants in gene SACS reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 70
Download table as spreadsheet
HGVS dbSNP
NM_014363.4(SACS):c.7276C>T rs786204750
NM_014363.6(SACS):c.1004C>A (p.Ser335Ter)
NM_014363.6(SACS):c.10644del (p.Phe3548fs) rs1555250160
NM_014363.6(SACS):c.10813A>T (p.Lys3605Ter) rs1360298758
NM_014363.6(SACS):c.10822_10823del (p.Ser3608fs) rs1555250082
NM_014363.6(SACS):c.10847G>A (p.Trp3616Ter)
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter) rs780247476
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln) rs281865119
NM_014363.6(SACS):c.10933del (p.Phe3644_Leu3645insTer) rs1566058677
NM_014363.6(SACS):c.10939G>T (p.Glu3647Ter) rs1156566314
NM_014363.6(SACS):c.11263_11264AT[1] (p.Ile3755fs) rs1400601705
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter) rs565203731
NM_014363.6(SACS):c.11707C>T (p.Arg3903Ter) rs774906736
NM_014363.6(SACS):c.12028C>T (p.Gln4010Ter) rs148297332
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) rs281865120
NM_014363.6(SACS):c.12220G>C (p.Ala4074Pro) rs137853016
NM_014363.6(SACS):c.13454T>C (p.Leu4485Ser) rs1566054340
NM_014363.6(SACS):c.13527dup (p.Glu4510fs) rs797045936
NM_014363.6(SACS):c.1441G>T (p.Glu481Ter)
NM_014363.6(SACS):c.1706G>A (p.Trp569Ter) rs1555254256
NM_014363.6(SACS):c.1707G>A (p.Trp569Ter)
NM_014363.6(SACS):c.1869del (p.Arg624fs) rs1006060877
NM_014363.6(SACS):c.187A>T (p.Lys63Ter)
NM_014363.6(SACS):c.1917_1918AC[1] (p.His640fs) rs797045937
NM_014363.6(SACS):c.1940del (p.Lys647fs)
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014363.6(SACS):c.262C>T (p.Arg88Ter) rs1555255676
NM_014363.6(SACS):c.2713A>T (p.Lys905Ter)
NM_014363.6(SACS):c.2881C>T (p.Arg961Ter)
NM_014363.6(SACS):c.2903_2906del (p.Asp968fs) rs1259615333
NM_014363.6(SACS):c.3055A>G (p.Asn1019Asp) rs1566071225
NM_014363.6(SACS):c.3161T>C (p.Phe1054Ser) rs137853019
NM_014363.6(SACS):c.4033dup (p.Gln1345fs) rs606231163
NM_014363.6(SACS):c.4103G>T (p.Ser1368Ile) rs1566069517
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter) rs867249938
NM_014363.6(SACS):c.4265_4274dup (p.Ile1426_Pro1427insAlaTer) rs1555252433
NM_014363.6(SACS):c.434C>G (p.Ser145Ter)
NM_014363.6(SACS):c.4585C>T (p.Gln1529Ter) rs1555252345
NM_014363.6(SACS):c.4598C>G (p.Ser1533Ter) rs886041813
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920
NM_014363.6(SACS):c.4877_4880del (p.Gly1626fs) rs757872635
NM_014363.6(SACS):c.5063_5064AG[1] (p.Ser1689fs) rs1372213267
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter) rs1057517311
NM_014363.6(SACS):c.5151dup (p.Ser1718fs) rs754439135
NM_014363.6(SACS):c.517C>T (p.Gln173Ter)
NM_014363.6(SACS):c.5707_5708del (p.Asp1903fs)
NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter) rs1485209013
NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg) rs137853017
NM_014363.6(SACS):c.6172del (p.Ser2058fs) rs1214399996
NM_014363.6(SACS):c.6338_6341del (p.Leu2113fs) rs1555251822
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter) rs766711286
NM_014363.6(SACS):c.6623del (p.Ala2208fs)
NM_014363.6(SACS):c.7139del (p.Asn2380fs) rs1057516689
NM_014363.6(SACS):c.7205_7206del (p.Leu2402fs) rs773182375
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter) rs145766983
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter) rs281865118
NM_014363.6(SACS):c.7641dup (p.Glu2548fs) rs876657720
NM_014363.6(SACS):c.8542_8543del (p.Phe2848fs) rs876657721
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_014363.6(SACS):c.8844del (p.Ile2949fs) rs281865117
NM_014363.6(SACS):c.9233del (p.Asn3078fs)
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter) rs886041949
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter) rs202199411
NM_014363.6(SACS):c.9561_9564del (p.Leu3187_Phe3188insTer) rs1060503431
NM_014363.6(SACS):c.961C>T (p.Arg321Ter) rs1175545518
NM_014363.6(SACS):c.9742T>C (p.Trp3248Arg) rs137853018
SACS, 1-BP DEL, 1411T
SACS, 1-BP DEL, 31760T
SACS, 1-BP INS, 1155A
SACS, 10-BP DEL, NT32627

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.