ClinVar Miner

List of variants in gene SACS reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 54
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HGVS dbSNP
NM_014363.4(SACS):c.7276C>T rs786204750
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg) rs147317123
NM_014363.6(SACS):c.10461_10462delinsAA (p.Asn3487_Leu3488delinsLysIle) rs886043821
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939
NM_014363.6(SACS):c.10668G>A (p.Leu3556=) rs139517699
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu) rs148286091
NM_014363.6(SACS):c.10822_10823del (p.Ser3608fs) rs1555250082
NM_014363.6(SACS):c.11152G>A (p.Glu3718Lys) rs750040557
NM_014363.6(SACS):c.11703T>C (p.Asn3901=) rs146154135
NM_014363.6(SACS):c.11899C>G (p.Gln3967Glu) rs1261408099
NM_014363.6(SACS):c.12028C>T (p.Gln4010Ter) rs148297332
NM_014363.6(SACS):c.1202G>A (p.Arg401Gln) rs749599838
NM_014363.6(SACS):c.1255A>G (p.Ile419Val) rs767818359
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys) rs749383532
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn) rs372359781
NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser) rs1555249106
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954
NM_014363.6(SACS):c.1917A>G (p.Ala639=) rs138457742
NM_014363.6(SACS):c.2233C>T (p.Arg745Cys)
NM_014363.6(SACS):c.2643G>C (p.Glu881Asp) rs200517685
NM_014363.6(SACS):c.2983G>T (p.Val995Phe) rs142967124
NM_014363.6(SACS):c.2988A>G (p.Leu996=) rs111846884
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr) rs371869943
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile) rs150981983
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr) rs76872266
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611
NM_014363.6(SACS):c.4117_4118delinsCT (p.Ala1373Leu) rs797045938
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val) rs61548169
NM_014363.6(SACS):c.4188C>T (p.His1396=) rs61754477
NM_014363.6(SACS):c.4279C>A (p.Pro1427Thr) rs527513599
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630
NM_014363.6(SACS):c.4469C>G (p.Ala1490Gly) rs886043557
NM_014363.6(SACS):c.4604T>G (p.Phe1535Cys) rs1566068804
NM_014363.6(SACS):c.4747C>A (p.Pro1583Thr) rs1566068552
NM_014363.6(SACS):c.5063_5064AG[1] (p.Ser1689fs) rs1372213267
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val) rs537408260
NM_014363.6(SACS):c.6240T>C (p.Val2080=) rs550680855
NM_014363.6(SACS):c.6267G>A (p.Ser2089=) rs9550956
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys) rs61754478
NM_014363.6(SACS):c.7466C>A (p.Pro2489His) rs766553685
NM_014363.6(SACS):c.8022T>C (p.Phe2674=) rs34928783
NM_014363.6(SACS):c.810T>G (p.Phe270Leu) rs116907814
NM_014363.6(SACS):c.8133G>A (p.Ser2711=) rs143386746
NM_014363.6(SACS):c.8142G>A (p.Ser2714=) rs530250252
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val) rs186436335
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile) rs772742353
NM_014363.6(SACS):c.8853T>C (p.Val2951=) rs9552929
NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg) rs11839380
NM_014363.6(SACS):c.9731T>A (p.Leu3244His) rs886042769
NM_014363.6(SACS):c.9852A>G (p.Thr3284=) rs147506904

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