ClinVar Miner

List of variants in gene SACS reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 236
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.432G>T (p.Trp144Cys) rs368570790 0.00006
NM_014363.6(SACS):c.13732A>T (p.Lys4578Ter) rs916523887 0.00004
NM_014363.6(SACS):c.346-3T>A rs186506382 0.00004
NM_014363.6(SACS):c.6496C>T (p.Arg2166Cys) rs764516788 0.00004
NM_014363.6(SACS):c.10675C>G (p.Pro3559Ala) rs767704103 0.00003
NM_014363.6(SACS):c.1941G>T (p.Lys647Asn) rs201021919 0.00003
NM_014363.6(SACS):c.4318A>G (p.Ser1440Gly) rs1172044277 0.00003
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln) rs281865119 0.00001
NM_014363.6(SACS):c.11150A>T (p.Lys3717Ile) rs1883567634 0.00001
NM_014363.6(SACS):c.11684T>G (p.Val3895Gly) rs766487632 0.00001
NM_014363.6(SACS):c.11738A>T (p.Asp3913Val) rs1236705431 0.00001
NM_014363.6(SACS):c.12059A>G (p.Lys4020Arg) rs1328721442 0.00001
NM_014363.6(SACS):c.1229T>C (p.Leu410Ser) rs777556535 0.00001
NM_014363.6(SACS):c.1236T>A (p.Asp412Glu) rs752472671 0.00001
NM_014363.6(SACS):c.1306G>A (p.Ala436Thr) rs1403003359 0.00001
NM_014363.6(SACS):c.1421G>A (p.Arg474His) rs1271593930 0.00001
NM_014363.6(SACS):c.1762A>G (p.Lys588Glu) rs376186273 0.00001
NM_014363.6(SACS):c.176C>G (p.Ser59Cys) rs773543202 0.00001
NM_014363.6(SACS):c.2092A>T (p.Arg698Trp) rs965068037 0.00001
NM_014363.6(SACS):c.2233C>T (p.Arg745Cys) rs536614181 0.00001
NM_014363.6(SACS):c.2581C>T (p.His861Tyr) rs759265754 0.00001
NM_014363.6(SACS):c.3261A>C (p.Leu1087Phe) rs1417936142 0.00001
NM_014363.6(SACS):c.326A>G (p.Glu109Gly) rs1317414910 0.00001
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe) rs139805032 0.00001
NM_014363.6(SACS):c.4628A>G (p.Glu1543Gly) rs370324250 0.00001
NM_014363.6(SACS):c.4639A>T (p.Arg1547Trp) rs772907934 0.00001
NM_014363.6(SACS):c.4665A>C (p.Lys1555Asn) rs769852897 0.00001
NM_014363.6(SACS):c.475T>C (p.Tyr159His) rs1305721973 0.00001
NM_014363.6(SACS):c.4782C>G (p.Asp1594Glu) rs1330036755 0.00001
NM_014363.6(SACS):c.5060C>T (p.Thr1687Ile) rs776656956 0.00001
NM_014363.6(SACS):c.593A>G (p.Tyr198Cys) rs1461096954 0.00001
NM_014363.6(SACS):c.6857A>G (p.Lys2286Arg) rs754381972 0.00001
NM_014363.6(SACS):c.7246A>G (p.Ile2416Val) rs774907744 0.00001
NM_014363.6(SACS):c.7595T>C (p.Ile2532Thr) rs1292962703 0.00001
NM_014363.6(SACS):c.7613C>T (p.Ala2538Val) rs1397645663 0.00001
NM_014363.6(SACS):c.7742C>T (p.Ala2581Val) rs866333277 0.00001
NM_014363.6(SACS):c.7981A>G (p.Ile2661Val) rs1269342975 0.00001
NM_014363.6(SACS):c.8012A>G (p.Asp2671Gly) rs373785542 0.00001
NM_014363.6(SACS):c.8132C>T (p.Ser2711Leu) rs1213203489 0.00001
NM_014363.6(SACS):c.8141C>T (p.Ser2714Leu) rs762610527 0.00001
NM_014363.6(SACS):c.818T>A (p.Phe273Tyr) rs182864646 0.00001
NM_014363.6(SACS):c.8281G>A (p.Val2761Met) rs372119773 0.00001
NM_014363.6(SACS):c.8356G>C (p.Asp2786His) rs753607639 0.00001
NM_014363.6(SACS):c.8357A>G (p.Asp2786Gly) rs1566063039 0.00001
NM_014363.6(SACS):c.8504G>A (p.Ser2835Asn) rs1382975968 0.00001
NM_014363.6(SACS):c.8956C>G (p.His2986Asp) rs751888795 0.00001
NM_014363.6(SACS):c.9008G>C (p.Gly3003Ala) rs1170753806 0.00001
NM_014363.6(SACS):c.9492A>C (p.Gln3164His) rs1025915131 0.00001
NM_014363.6(SACS):c.9731T>A (p.Leu3244His) rs886042769 0.00001
NM_014363.6(SACS):c.10076C>A (p.Thr3359Lys) rs368089670
NM_014363.6(SACS):c.10126G>A (p.Ala3376Thr)
NM_014363.6(SACS):c.10175A>G (p.Asn3392Ser) rs746316505
NM_014363.6(SACS):c.10197G>A (p.Met3399Ile)
NM_014363.6(SACS):c.10298C>G (p.Thr3433Arg) rs200991790
NM_014363.6(SACS):c.10327A>C (p.Lys3443Gln) rs768317695
NM_014363.6(SACS):c.10340C>T (p.Ser3447Leu) rs2137575641
NM_014363.6(SACS):c.10387T>C (p.Tyr3463His) rs1883623876
NM_014363.6(SACS):c.1058G>A (p.Gly353Glu)
NM_014363.6(SACS):c.10708A>T (p.Ile3570Leu) rs878854977
NM_014363.6(SACS):c.10724A>T (p.His3575Leu) rs370579192
NM_014363.6(SACS):c.10780A>G (p.Ile3594Val) rs994425261
NM_014363.6(SACS):c.10791_10792delinsAA (p.Gln3598Lys)
NM_014363.6(SACS):c.10917G>T (p.Leu3639Phe)
NM_014363.6(SACS):c.11143A>G (p.Ser3715Gly)
NM_014363.6(SACS):c.11165G>A (p.Ser3722Asn)
NM_014363.6(SACS):c.11168A>T (p.Asp3723Val)
NM_014363.6(SACS):c.11227C>T (p.Pro3743Ser)
NM_014363.6(SACS):c.11257A>G (p.Arg3753Gly) rs1883560944
NM_014363.6(SACS):c.11274_11276del (p.Ile3758_Thr3759delinsMet)
NM_014363.6(SACS):c.11291A>C (p.Glu3764Ala) rs1593122374
NM_014363.6(SACS):c.11319_11321del (p.Arg3774del) rs1883553503
NM_014363.6(SACS):c.11326A>G (p.Ile3776Val) rs770269690
NM_014363.6(SACS):c.11335T>A (p.Phe3779Ile)
NM_014363.6(SACS):c.11350A>G (p.Lys3784Glu)
NM_014363.6(SACS):c.11402A>G (p.Asp3801Gly)
NM_014363.6(SACS):c.11500A>G (p.Thr3834Ala)
NM_014363.6(SACS):c.11517C>G (p.Phe3839Leu)
NM_014363.6(SACS):c.1153A>G (p.Lys385Glu) rs1281714392
NM_014363.6(SACS):c.11540T>C (p.Ile3847Thr)
NM_014363.6(SACS):c.11693A>G (p.Asp3898Gly)
NM_014363.6(SACS):c.11774A>T (p.Asp3925Val)
NM_014363.6(SACS):c.11963A>G (p.Lys3988Arg) rs1883502413
NM_014363.6(SACS):c.11965G>T (p.Val3989Phe)
NM_014363.6(SACS):c.12025G>A (p.Glu4009Lys) rs990358595
NM_014363.6(SACS):c.12073A>G (p.Asn4025Asp) rs1883495382
NM_014363.6(SACS):c.12233G>A (p.Arg4078Gln)
NM_014363.6(SACS):c.12242A>G (p.Asn4081Ser) rs1060503432
NM_014363.6(SACS):c.12326C>A (p.Ala4109Glu) rs2137559516
NM_014363.6(SACS):c.12404A>G (p.Lys4135Arg)
NM_014363.6(SACS):c.12434C>G (p.Ser4145Cys)
NM_014363.6(SACS):c.12532C>T (p.Pro4178Ser)
NM_014363.6(SACS):c.12682G>C (p.Asp4228His) rs1447327391
NM_014363.6(SACS):c.12820A>G (p.Arg4274Gly) rs1566055596
NM_014363.6(SACS):c.12866C>A (p.Ser4289Tyr)
NM_014363.6(SACS):c.12896A>G (p.Lys4299Arg)
NM_014363.6(SACS):c.12905C>A (p.Ser4302Tyr) rs778808568
NM_014363.6(SACS):c.12934_12935delinsAA (p.Ser4312Asn)
NM_014363.6(SACS):c.13079A>T (p.Asn4360Ile)
NM_014363.6(SACS):c.1310C>G (p.Thr437Arg) rs199657817
NM_014363.6(SACS):c.13122G>C (p.Arg4374Ser) rs2137551679
NM_014363.6(SACS):c.13165T>G (p.Ser4389Ala) rs2137551379
NM_014363.6(SACS):c.13214C>T (p.Ala4405Val) rs1300062381
NM_014363.6(SACS):c.13225A>G (p.Lys4409Glu) rs775817492
NM_014363.6(SACS):c.13271C>T (p.Ala4424Val) rs1883403045
NM_014363.6(SACS):c.13281_13282delinsAG (p.Tyr4428Asp)
NM_014363.6(SACS):c.13286C>G (p.Ser4429Cys) rs765818580
NM_014363.6(SACS):c.13378_13379delinsTA (p.Ala4460Tyr) rs1566054479
NM_014363.6(SACS):c.13474G>A (p.Val4492Met) rs774647600
NM_014363.6(SACS):c.13526T>C (p.Ile4509Thr)
NM_014363.6(SACS):c.13699A>G (p.Ile4567Val)
NM_014363.6(SACS):c.13738_13739del (p.Ter4580LysextTer?) rs776682685
NM_014363.6(SACS):c.1391T>G (p.Ile464Ser) rs1593144937
NM_014363.6(SACS):c.1507A>G (p.Lys503Glu)
NM_014363.6(SACS):c.1510G>A (p.Ala504Thr)
NM_014363.6(SACS):c.1525A>G (p.Ile509Val) rs1566080067
NM_014363.6(SACS):c.1693A>C (p.Ile565Leu) rs772240153
NM_014363.6(SACS):c.1807A>G (p.Lys603Glu) rs983822008
NM_014363.6(SACS):c.2062G>A (p.Val688Ile)
NM_014363.6(SACS):c.2066T>C (p.Ile689Thr)
NM_014363.6(SACS):c.2233_2235delinsTTC (p.Arg745Phe) rs1869237949
NM_014363.6(SACS):c.2312G>T (p.Arg771Ile) rs2137645196
NM_014363.6(SACS):c.2404C>T (p.Leu802Phe) rs1869215579
NM_014363.6(SACS):c.2414G>C (p.Arg805Thr)
NM_014363.6(SACS):c.2437A>G (p.Thr813Ala)
NM_014363.6(SACS):c.2488G>C (p.Asp830His)
NM_014363.6(SACS):c.2573C>T (p.Ser858Phe)
NM_014363.6(SACS):c.2599T>C (p.Tyr867His) rs774682589
NM_014363.6(SACS):c.2801C>T (p.Ser934Phe)
NM_014363.6(SACS):c.2996T>G (p.Ile999Ser)
NM_014363.6(SACS):c.3055A>G (p.Asn1019Asp) rs1566071225
NM_014363.6(SACS):c.3329T>C (p.Ile1110Thr) rs1869108945
NM_014363.6(SACS):c.3370C>T (p.Leu1124Phe)
NM_014363.6(SACS):c.3641G>A (p.Gly1214Glu)
NM_014363.6(SACS):c.367G>T (p.Asp123Tyr)
NM_014363.6(SACS):c.3689TTG[2] (p.Val1232del)
NM_014363.6(SACS):c.3691G>C (p.Val1231Leu)
NM_014363.6(SACS):c.3739C>A (p.Gln1247Lys) rs1869063828
NM_014363.6(SACS):c.3774C>A (p.Phe1258Leu)
NM_014363.6(SACS):c.377C>G (p.Ala126Gly) rs1476132092
NM_014363.6(SACS):c.3814G>A (p.Ala1272Thr)
NM_014363.6(SACS):c.3840T>A (p.Thr1280=) rs1319754110
NM_014363.6(SACS):c.3857C>T (p.Pro1286Leu)
NM_014363.6(SACS):c.3886C>G (p.His1296Asp)
NM_014363.6(SACS):c.3971T>C (p.Ile1324Thr)
NM_014363.6(SACS):c.4216G>A (p.Asp1406Asn)
NM_014363.6(SACS):c.4457A>T (p.Asp1486Val) rs2137627584
NM_014363.6(SACS):c.4505A>T (p.Asn1502Ile) rs1246233364
NM_014363.6(SACS):c.4587A>G (p.Gln1529=) rs1868971659
NM_014363.6(SACS):c.4651G>A (p.Asp1551Asn)
NM_014363.6(SACS):c.4753A>G (p.Ile1585Val) rs2137624716
NM_014363.6(SACS):c.4888C>G (p.Pro1630Ala)
NM_014363.6(SACS):c.5012C>T (p.Ser1671Phe)
NM_014363.6(SACS):c.5035T>A (p.Cys1679Ser)
NM_014363.6(SACS):c.5079G>A (p.Met1693Ile) rs775069857
NM_014363.6(SACS):c.5141T>C (p.Ile1714Thr) rs2137621295
NM_014363.6(SACS):c.5304_5306del (p.His1769del) rs1555252136
NM_014363.6(SACS):c.5320A>T (p.Ile1774Phe)
NM_014363.6(SACS):c.5328T>A (p.Asp1776Glu)
NM_014363.6(SACS):c.5450C>T (p.Thr1817Met) rs898102157
NM_014363.6(SACS):c.5468G>T (p.Cys1823Phe) rs967386746
NM_014363.6(SACS):c.5498C>T (p.Ser1833Phe)
NM_014363.6(SACS):c.5585C>G (p.Thr1862Arg)
NM_014363.6(SACS):c.559G>T (p.Val187Phe) rs1344578174
NM_014363.6(SACS):c.5622A>C (p.Leu1874Phe)
NM_014363.6(SACS):c.5674G>A (p.Val1892Ile) rs2137616839
NM_014363.6(SACS):c.5684A>G (p.Asn1895Ser)
NM_014363.6(SACS):c.5711C>T (p.Thr1904Ile) rs758570844
NM_014363.6(SACS):c.5747T>A (p.Val1916Asp)
NM_014363.6(SACS):c.5768A>C (p.Gln1923Pro) rs1868830508
NM_014363.6(SACS):c.5858A>T (p.His1953Leu) rs1428265468
NM_014363.6(SACS):c.5920G>A (p.Glu1974Lys)
NM_014363.6(SACS):c.5927C>G (p.Thr1976Ser)
NM_014363.6(SACS):c.5935T>G (p.Phe1979Val)
NM_014363.6(SACS):c.5998A>G (p.Lys2000Glu)
NM_014363.6(SACS):c.6007G>A (p.Asp2003Asn)
NM_014363.6(SACS):c.600A>G (p.Ile200Met) rs2137742429
NM_014363.6(SACS):c.6019G>C (p.Ala2007Pro)
NM_014363.6(SACS):c.605A>G (p.Asp202Gly) rs777554091
NM_014363.6(SACS):c.614G>T (p.Cys205Phe) rs2137729432
NM_014363.6(SACS):c.6281T>A (p.Val2094Asp)
NM_014363.6(SACS):c.6343C>T (p.His2115Tyr) rs757161092
NM_014363.6(SACS):c.6362C>T (p.Ala2121Val)
NM_014363.6(SACS):c.6436A>G (p.Ile2146Val) rs1415663565
NM_014363.6(SACS):c.6455G>A (p.Gly2152Asp)
NM_014363.6(SACS):c.6460G>T (p.Ala2154Ser) rs146031135
NM_014363.6(SACS):c.653A>T (p.His218Leu)
NM_014363.6(SACS):c.6679T>A (p.Leu2227Met) rs1868697576
NM_014363.6(SACS):c.6702T>A (p.Phe2234Leu) rs774487714
NM_014363.6(SACS):c.6739A>G (p.Thr2247Ala) rs1272133291
NM_014363.6(SACS):c.674A>G (p.His225Arg)
NM_014363.6(SACS):c.6751C>A (p.Gln2251Lys) rs747293426
NM_014363.6(SACS):c.675T>G (p.His225Gln) rs2137729069
NM_014363.6(SACS):c.6822_6833del (p.Ser2275_Val2278del)
NM_014363.6(SACS):c.6871G>C (p.Asp2291His) rs1170939021
NM_014363.6(SACS):c.6897A>C (p.Glu2299Asp)
NM_014363.6(SACS):c.703G>T (p.Asp235Tyr)
NM_014363.6(SACS):c.7052A>G (p.Asn2351Ser)
NM_014363.6(SACS):c.7079C>A (p.Ser2360Tyr)
NM_014363.6(SACS):c.7216T>C (p.Ser2406Pro) rs2137602722
NM_014363.6(SACS):c.7319A>G (p.Lys2440Arg)
NM_014363.6(SACS):c.745C>T (p.Pro249Ser)
NM_014363.6(SACS):c.7464A>G (p.Ile2488Met) rs1593127405
NM_014363.6(SACS):c.7520A>G (p.Glu2507Gly)
NM_014363.6(SACS):c.7585A>G (p.Thr2529Ala)
NM_014363.6(SACS):c.7586C>A (p.Thr2529Asn) rs1320224325
NM_014363.6(SACS):c.7794A>T (p.Glu2598Asp) rs1490465452
NM_014363.6(SACS):c.7955C>T (p.Ala2652Val)
NM_014363.6(SACS):c.8161A>G (p.Arg2721Gly) rs1868522362
NM_014363.6(SACS):c.8222T>C (p.Leu2741Pro)
NM_014363.6(SACS):c.8232G>A (p.Met2744Ile)
NM_014363.6(SACS):c.8238A>C (p.Lys2746Asn) rs1029961212
NM_014363.6(SACS):c.8288A>G (p.Tyr2763Cys)
NM_014363.6(SACS):c.8300G>A (p.Gly2767Asp)
NM_014363.6(SACS):c.8384A>G (p.Lys2795Arg)
NM_014363.6(SACS):c.8388_8402del (p.Asp2796_Gln2801delinsGlu) rs1593126382
NM_014363.6(SACS):c.8395G>C (p.Val2799Leu)
NM_014363.6(SACS):c.8575C>G (p.His2859Asp)
NM_014363.6(SACS):c.862_863delinsTC (p.Asn288Ser) rs1555254433
NM_014363.6(SACS):c.8641T>G (p.Phe2881Val)
NM_014363.6(SACS):c.8702A>G (p.Asn2901Ser)
NM_014363.6(SACS):c.8803C>T (p.Pro2935Ser)
NM_014363.6(SACS):c.9103T>G (p.Leu3035Val)
NM_014363.6(SACS):c.9143G>A (p.Arg3048His) rs553929593
NM_014363.6(SACS):c.9163G>A (p.Val3055Ile)
NM_014363.6(SACS):c.9259G>A (p.Asp3087Asn) rs2137585503
NM_014363.6(SACS):c.9328A>G (p.Thr3110Ala) rs1883705967
NM_014363.6(SACS):c.9346_9354dup (p.Lys3116_Pro3118dup) rs2137584629
NM_014363.6(SACS):c.9353C>T (p.Pro3118Leu)
NM_014363.6(SACS):c.9515A>G (p.Lys3172Arg)
NM_014363.6(SACS):c.9519T>G (p.Phe3173Leu) rs780746393
NM_014363.6(SACS):c.9605A>C (p.Asn3202Thr)
NM_014363.6(SACS):c.9608G>A (p.Cys3203Tyr)
NM_014363.6(SACS):c.9671G>C (p.Arg3224Pro) rs763546908
NM_014363.6(SACS):c.9808_9810del (p.Ile3270del)
NM_014363.6(SACS):c.9949A>G (p.Ser3317Gly) rs769422067
NM_014363.6(SACS):c.9955A>G (p.Lys3319Glu) rs1566060408

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.