ClinVar Miner

List of variants in gene SACS reported as likely pathogenic by Baylor Genetics

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Gene type:
ClinVar version:
Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser) rs371019314 0.00006
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter) rs1057517250 0.00001
NM_014363.6(SACS):c.11624G>A (p.Arg3875His) rs863224916 0.00001
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu) rs1440541889 0.00001
NM_014363.6(SACS):c.1869del (p.Arg624fs) rs1006060877 0.00001
NM_014363.6(SACS):c.3745C>T (p.Gln1249Ter) rs1027429746 0.00001
NM_014363.6(SACS):c.5582G>A (p.Trp1861Ter) rs946368716 0.00001
NM_014363.6(SACS):c.8108G>A (p.Arg2703His) rs750181262 0.00001
NM_014363.6(SACS):c.8132C>T (p.Ser2711Leu) rs1213203489 0.00001
NM_014363.6(SACS):c.10055_10056del (p.Thr3352fs)
NM_014363.6(SACS):c.10536_10537del (p.Glu3512fs)
NM_014363.6(SACS):c.10546C>T (p.Gln3516Ter) rs1593123432
NM_014363.6(SACS):c.10645G>T (p.Glu3549Ter)
NM_014363.6(SACS):c.10804C>T (p.Gln3602Ter) rs1057517002
NM_014363.6(SACS):c.10900C>T (p.Gln3634Ter)
NM_014363.6(SACS):c.10944_10947dup (p.Leu3650fs)
NM_014363.6(SACS):c.11109del (p.Cys3704fs) rs2137569412
NM_014363.6(SACS):c.11136del (p.Pro3713_Leu3714insTer) rs2137569225
NM_014363.6(SACS):c.11191del (p.Glu3731fs)
NM_014363.6(SACS):c.11286_11287del (p.Asp3762fs)
NM_014363.6(SACS):c.11302del (p.Thr3768fs)
NM_014363.6(SACS):c.11361dup (p.Arg3788fs)
NM_014363.6(SACS):c.11373dup (p.Arg3792fs) rs1555249904
NM_014363.6(SACS):c.11406_11409del (p.Trp3803fs)
NM_014363.6(SACS):c.1162C>T (p.Gln388Ter)
NM_014363.6(SACS):c.11724C>G (p.Tyr3908Ter) rs745740932
NM_014363.6(SACS):c.11946del (p.Asp3983fs)
NM_014363.6(SACS):c.12147C>A (p.Cys4049Ter)
NM_014363.6(SACS):c.1229T>A (p.Leu410Ter)
NM_014363.6(SACS):c.12373G>T (p.Gly4125Ter)
NM_014363.6(SACS):c.12378C>A (p.Cys4126Ter)
NM_014363.6(SACS):c.12471dup (p.Thr4158fs)
NM_014363.6(SACS):c.12523_12541del (p.Val4175fs)
NM_014363.6(SACS):c.12707_12708del (p.Ile4236fs)
NM_014363.6(SACS):c.12770_12917del (p.Ser4257fs)
NM_014363.6(SACS):c.12795_12798del (p.Thr4266fs)
NM_014363.6(SACS):c.12860del (p.Lys4287fs)
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs) rs1057517294
NM_014363.6(SACS):c.13112dup (p.Asn4371fs)
NM_014363.6(SACS):c.13252_13253del (p.Glu4418fs) rs1883405453
NM_014363.6(SACS):c.13283dup (p.Tyr4428Ter) rs1057517123
NM_014363.6(SACS):c.13350G>A (p.Trp4450Ter)
NM_014363.6(SACS):c.13433dup (p.Tyr4478Ter)
NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser) rs1555249106
NM_014363.6(SACS):c.172-2A>G
NM_014363.6(SACS):c.1807A>T (p.Lys603Ter)
NM_014363.6(SACS):c.1894C>T (p.Arg632Trp)
NM_014363.6(SACS):c.1965_1966del (p.Leu655_Ser656insTer)
NM_014363.6(SACS):c.2176C>T (p.Gln726Ter)
NM_014363.6(SACS):c.2189_2190delinsT (p.Arg730fs)
NM_014363.6(SACS):c.2291G>A (p.Trp764Ter)
NM_014363.6(SACS):c.2396_2399dup (p.Met800fs)
NM_014363.6(SACS):c.239C>G (p.Ser80Ter)
NM_014363.6(SACS):c.2503C>T (p.Gln835Ter)
NM_014363.6(SACS):c.257del (p.Gly86fs)
NM_014363.6(SACS):c.2620del (p.Ser874fs)
NM_014363.6(SACS):c.2630T>A (p.Leu877Ter)
NM_014363.6(SACS):c.2886_2887del (p.Ser963fs) rs1326359185
NM_014363.6(SACS):c.2987T>G (p.Leu996Ter) rs1450257625
NM_014363.6(SACS):c.3130C>T (p.Gln1044Ter)
NM_014363.6(SACS):c.3218dup (p.Pro1075fs)
NM_014363.6(SACS):c.3356del (p.Pro1119fs) rs1057517039
NM_014363.6(SACS):c.351_354del (p.Leu117fs)
NM_014363.6(SACS):c.3557del (p.Met1186fs)
NM_014363.6(SACS):c.3684dup (p.Lys1229Ter)
NM_014363.6(SACS):c.382_383del (p.Glu128fs) rs757179309
NM_014363.6(SACS):c.388A>T (p.Lys130Ter)
NM_014363.6(SACS):c.3946C>T (p.Gln1316Ter)
NM_014363.6(SACS):c.4168del (p.Ile1391fs) rs1555252465
NM_014363.6(SACS):c.4424C>A (p.Ser1475Ter)
NM_014363.6(SACS):c.4438G>T (p.Glu1480Ter)
NM_014363.6(SACS):c.4521_4522del (p.Asn1508fs)
NM_014363.6(SACS):c.470_471del (p.Tyr157fs) rs1444216187
NM_014363.6(SACS):c.4716del (p.Ile1572_Met1573insTer)
NM_014363.6(SACS):c.4760A>G (p.His1587Arg)
NM_014363.6(SACS):c.4762_4763del (p.Ile1588fs)
NM_014363.6(SACS):c.4783_4787del (p.Lys1595fs)
NM_014363.6(SACS):c.4811G>A (p.Trp1604Ter)
NM_014363.6(SACS):c.4884del (p.Gln1628fs)
NM_014363.6(SACS):c.4894_4897del (p.Leu1631_Thr1632insTer) rs1057516580
NM_014363.6(SACS):c.5065_5066del (p.Ser1689fs) rs1372213267
NM_014363.6(SACS):c.5195del (p.Val1731_Leu1732insTer)
NM_014363.6(SACS):c.5379del (p.Phe1793fs) rs1057517297
NM_014363.6(SACS):c.5402C>G (p.Ser1801Ter)
NM_014363.6(SACS):c.5405_5408del (p.Lys1802fs)
NM_014363.6(SACS):c.5440_5449del (p.Glu1814fs) rs1566067485
NM_014363.6(SACS):c.5515A>T (p.Arg1839Ter)
NM_014363.6(SACS):c.5707_5708del (p.Asp1903fs) rs1593129673
NM_014363.6(SACS):c.5809dup (p.Leu1937fs)
NM_014363.6(SACS):c.604+1_604+4del
NM_014363.6(SACS):c.6045_6049del (p.Tyr2015_Lys2017delinsTer)
NM_014363.6(SACS):c.6186dup (p.Pro2063fs) rs2137611917
NM_014363.6(SACS):c.6282del (p.Thr2095fs) rs1555251853
NM_014363.6(SACS):c.654del (p.Gln219fs)
NM_014363.6(SACS):c.6866_6867del (p.Thr2289fs)
NM_014363.6(SACS):c.699del (p.Asp235fs) rs1415870785
NM_014363.6(SACS):c.7080_7084del (p.His2362fs) rs1294102415
NM_014363.6(SACS):c.708del (p.Asp236fs)
NM_014363.6(SACS):c.7114dup (p.Tyr2372fs) rs1057517222
NM_014363.6(SACS):c.7252G>T (p.Glu2418Ter) rs2137602382
NM_014363.6(SACS):c.7499dup (p.Arg2502fs)
NM_014363.6(SACS):c.7903del (p.Cys2635fs) rs1028098148
NM_014363.6(SACS):c.8070del (p.Phe2690fs)
NM_014363.6(SACS):c.8071A>T (p.Lys2691Ter)
NM_014363.6(SACS):c.8107C>T (p.Arg2703Cys) rs780332615
NM_014363.6(SACS):c.8148del (p.Pro2717fs)
NM_014363.6(SACS):c.815G>A (p.Arg272His) rs745907077
NM_014363.6(SACS):c.8340del (p.His2781fs) rs753958013
NM_014363.6(SACS):c.8374_8375del (p.Arg2792fs)
NM_014363.6(SACS):c.8404_8407del (p.Ile2802fs)
NM_014363.6(SACS):c.8574_8577del (p.His2859fs) rs1555250991
NM_014363.6(SACS):c.8589dup (p.Pro2864fs) rs1555250987
NM_014363.6(SACS):c.8793dup (p.Arg2932fs) rs767871841
NM_014363.6(SACS):c.8807del (p.Gly2936fs)
NM_014363.6(SACS):c.896_898delinsCT (p.Phe299fs)
NM_014363.6(SACS):c.9106C>T (p.Gln3036Ter)
NM_014363.6(SACS):c.9119del (p.Asn3040fs)
NM_014363.6(SACS):c.9219_9220del (p.Cys3073_Asp3074delinsTer)
NM_014363.6(SACS):c.9266del (p.Pro3089fs)
NM_014363.6(SACS):c.9376del (p.Asn3125_Leu3126insTer)
NM_014363.6(SACS):c.9390_9391del (p.His3130fs) rs1057517349
NM_014363.6(SACS):c.9580_9587delinsC (p.Lys3195fs)
NM_014363.6(SACS):c.9660dup (p.Val3221fs)
NM_014363.6(SACS):c.9663_9664del (p.Leu3222fs)
NM_014363.6(SACS):c.9762del (p.Ser3254_Val3255insTer)
NM_014363.6(SACS):c.9833G>A (p.Trp3278Ter)
NM_014363.6(SACS):c.9851del (p.Thr3284fs)
NM_014363.6(SACS):c.9879del (p.Val3294fs) rs2137580025
NM_014363.6(SACS):c.9956_9957del (p.Lys3319fs) rs772704931

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