ClinVar Miner

List of variants in gene SACS reported as pathogenic

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Gene type:
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Total variants: 174
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HGVS dbSNP
NM_014363.4(SACS):c.7276C>T rs786204750
NM_014363.6(SACS):c.1004C>A (p.Ser335Ter) rs767435985
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter) rs1057517250
NM_014363.6(SACS):c.1014dup (p.Lys339Ter)
NM_014363.6(SACS):c.10634_10635del (p.Val3545fs)
NM_014363.6(SACS):c.10644del (p.Phe3548fs) rs1555250160
NM_014363.6(SACS):c.10671dup (p.Ile3558fs)
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) rs1365858851
NM_014363.6(SACS):c.10855G>T (p.Glu3619Ter)
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.10932dup (p.Leu3645fs)
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.11109del (p.Cys3704fs)
NM_014363.6(SACS):c.11136del (p.Pro3713_Leu3714insTer)
NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs) rs1400601705
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter) rs565203731
NM_014363.6(SACS):c.11606T>A (p.Leu3869Ter)
NM_014363.6(SACS):c.11637_11638del (p.Arg3879fs) rs1593121924
NM_014363.6(SACS):c.11674dup (p.Ser3892fs)
NM_014363.6(SACS):c.11707C>T (p.Arg3903Ter) rs774906736
NM_014363.6(SACS):c.1189_1190del (p.Ser397fs) rs1057516625
NM_014363.6(SACS):c.11914C>T (p.Arg3972Ter)
NM_014363.6(SACS):c.11941C>T (p.Gln3981Ter) rs1593121484
NM_014363.6(SACS):c.12014T>C (p.Leu4005Pro)
NM_014363.6(SACS):c.1201C>T (p.Arg401Ter)
NM_014363.6(SACS):c.12028C>T (p.Gln4010Ter) rs148297332
NM_014363.6(SACS):c.12106A>T (p.Arg4036Ter)
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.12268C>A (p.His4090Asn)
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs) rs1057516365
NM_014363.6(SACS):c.12536del (p.Gly4179fs)
NM_014363.6(SACS):c.12538G>T (p.Glu4180Ter)
NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter) rs1555249555
NM_014363.6(SACS):c.12835_12836del (p.Leu4279fs) rs1555249425
NM_014363.6(SACS):c.12908T>A (p.Leu4303Ter) rs1566055368
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs) rs1057517294
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter) rs762947018
NM_014363.6(SACS):c.12980del (p.Lys4327fs) rs1555249371
NM_014363.6(SACS):c.12981_12984del (p.Ile4328fs)
NM_014363.6(SACS):c.13064del (p.Leu4355fs)
NM_014363.6(SACS):c.13156C>T (p.Arg4386Ter)
NM_014363.6(SACS):c.13208_13209del (p.Gln4403fs)
NM_014363.6(SACS):c.13252_13253del (p.Glu4418fs)
NM_014363.6(SACS):c.13454T>C (p.Leu4485Ser) rs1566054340
NM_014363.6(SACS):c.13527dup (p.Glu4510fs) rs797045936
NM_014363.6(SACS):c.1358del (p.Gly453fs)
NM_014363.6(SACS):c.1441G>T (p.Glu481Ter) rs1593144887
NM_014363.6(SACS):c.1555del (p.Glu519fs)
NM_014363.6(SACS):c.1672C>T (p.Gln558Ter) rs923921184
NM_014363.6(SACS):c.1706G>A (p.Trp569Ter) rs1555254256
NM_014363.6(SACS):c.1707G>A (p.Trp569Ter) rs1593144544
NM_014363.6(SACS):c.1752del (p.Glu585fs)
NM_014363.6(SACS):c.1769_1770del (p.Val590fs)
NM_014363.6(SACS):c.1869del (p.Arg624fs) rs1006060877
NM_014363.6(SACS):c.187A>T (p.Lys63Ter) rs1593157923
NM_014363.6(SACS):c.1919_1920del (p.His640fs) rs797045937
NM_014363.6(SACS):c.1940del (p.Lys647fs) rs1593144167
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014363.6(SACS):c.23G>A (p.Trp8Ter)
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063
NM_014363.6(SACS):c.2578C>T (p.Gln860Ter)
NM_014363.6(SACS):c.262C>T (p.Arg88Ter) rs1555255676
NM_014363.6(SACS):c.2699_2700del (p.Lys900fs) rs1167474602
NM_014363.6(SACS):c.2713A>T (p.Lys905Ter) rs1593133714
NM_014363.6(SACS):c.2775_2776del (p.Phe927fs) rs1593133607
NM_014363.6(SACS):c.2881C>T (p.Arg961Ter) rs1593133395
NM_014363.6(SACS):c.2903_2906del (p.Asp968fs) rs1259615333
NM_014363.6(SACS):c.2938_2939del (p.Met980fs) rs1593133306
NM_014363.6(SACS):c.3055A>G (p.Asn1019Asp) rs1566071225
NM_014363.6(SACS):c.3059dup (p.Ser1021fs)
NM_014363.6(SACS):c.3094G>T (p.Glu1032Ter)
NM_014363.6(SACS):c.3161T>C (p.Phe1054Ser) rs137853019
NM_014363.6(SACS):c.3281dup (p.Asn1094fs)
NM_014363.6(SACS):c.3298_3301del (p.Glu1100fs)
NM_014363.6(SACS):c.3356del (p.Pro1119fs) rs1057517039
NM_014363.6(SACS):c.3427C>T (p.Gln1143Ter) rs144267558
NM_014363.6(SACS):c.382_383del (p.Glu128fs)
NM_014363.6(SACS):c.4033dup (p.Gln1345fs) rs606231163
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611
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.4259_4263del (p.Ile1420fs)
NM_014363.6(SACS):c.4265_4274dup (p.Ile1426_Pro1427insAlaTer) rs1555252433
NM_014363.6(SACS):c.434C>G (p.Ser145Ter) rs994374354
NM_014363.6(SACS):c.4565_4568del (p.Leu1522fs) rs1555252349
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.4718T>G (p.Met1573Arg)
NM_014363.6(SACS):c.4724G>C (p.Arg1575Pro)
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920
NM_014363.6(SACS):c.4835dup (p.Phe1614fs)
NM_014363.6(SACS):c.4877_4880del (p.Gly1626fs) rs757872635
NM_014363.6(SACS):c.4911C>A (p.Tyr1637Ter)
NM_014363.6(SACS):c.4933C>T (p.Arg1645Ter)
NM_014363.6(SACS):c.5008_5011del (p.Tyr1670fs)
NM_014363.6(SACS):c.5065_5066del (p.Ser1689fs) rs1372213267
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter) rs1057517311
NM_014363.6(SACS):c.5143A>T (p.Lys1715Ter)
NM_014363.6(SACS):c.5151del (p.Lys1717fs)
NM_014363.6(SACS):c.5151dup (p.Ser1718fs) rs754439135
NM_014363.6(SACS):c.5172_5173delinsTGGAACACAAAG (p.Leu1724fs)
NM_014363.6(SACS):c.517C>T (p.Gln173Ter) rs1593147785
NM_014363.6(SACS):c.5428C>T (p.Gln1810Ter)
NM_014363.6(SACS):c.5582G>A (p.Trp1861Ter)
NM_014363.6(SACS):c.5598_5599del (p.Ile1867fs) rs1555252086
NM_014363.6(SACS):c.56del (p.Gly19fs)
NM_014363.6(SACS):c.5707_5708del (p.Asp1903fs) rs1593129673
NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter) rs1485209013
NM_014363.6(SACS):c.5744_5745del (p.His1915fs) rs1057517138
NM_014363.6(SACS):c.5761T>G (p.Tyr1921Asp)
NM_014363.6(SACS):c.5796_5809del (p.Thr1933fs)
NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg) rs137853017
NM_014363.6(SACS):c.6000_6004del (p.Arg2002fs)
NM_014363.6(SACS):c.6126C>A (p.Cys2042Ter)
NM_014363.6(SACS):c.6172del (p.Ser2058fs) rs1214399996
NM_014363.6(SACS):c.6290del (p.Cys2097fs)
NM_014363.6(SACS):c.6300T>A (p.Cys2100Ter)
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.6434T>A (p.Leu2145Ter) rs770490672
NM_014363.6(SACS):c.6448_6452del (p.Gln2150fs) rs1057516635
NM_014363.6(SACS):c.6623del (p.Ala2208fs) rs1181477970
NM_014363.6(SACS):c.6650C>A (p.Pro2217Gln)
NM_014363.6(SACS):c.699del (p.Asp235fs)
NM_014363.6(SACS):c.7139del (p.Asn2380fs) rs1057516689
NM_014363.6(SACS):c.7147del (p.Arg2383fs)
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs) rs1555251539
NM_014363.6(SACS):c.7205_7206del (p.Leu2402fs) rs773182375
NM_014363.6(SACS):c.7250_7254del (p.Thr2417fs)
NM_014363.6(SACS):c.7272C>A (p.Cys2424Ter)
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter) rs145766983
NM_014363.6(SACS):c.7274G>C (p.Arg2425Pro)
NM_014363.6(SACS):c.7374del (p.Met2459fs)
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter) rs281865118
NM_014363.6(SACS):c.7641dup (p.Glu2548fs) rs876657720
NM_014363.6(SACS):c.7655dup (p.Asn2552fs)
NM_014363.6(SACS):c.7764_7767dup (p.Val2590fs)
NM_014363.6(SACS):c.7788del (p.Phe2596fs) rs1057516959
NM_014363.6(SACS):c.7844del (p.Asn2615fs) rs758572409
NM_014363.6(SACS):c.8132C>A (p.Ser2711Ter)
NM_014363.6(SACS):c.814C>T (p.Arg272Cys) rs374128662
NM_014363.6(SACS):c.8227del (p.His2743fs)
NM_014363.6(SACS):c.8340del (p.His2781fs) rs753958013
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762
NM_014363.6(SACS):c.8454G>A (p.Trp2818Ter)
NM_014363.6(SACS):c.8471C>G (p.Ser2824Ter)
NM_014363.6(SACS):c.8542_8543del (p.Phe2848fs) rs876657721
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter) rs750732115
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_014363.6(SACS):c.8793dup (p.Arg2932fs)
NM_014363.6(SACS):c.8844del (p.Ile2949fs) rs281865117
NM_014363.6(SACS):c.914_915del (p.Thr305fs)
NM_014363.6(SACS):c.9233del (p.Asn3078fs) rs1593125341
NM_014363.6(SACS):c.9249del (p.Leu3083_Ile3084insTer)
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter) rs886041949
NM_014363.6(SACS):c.9332del (p.Asn3111fs)
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser) rs371019314
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.9576_9580del (p.Leu3192fs)
NM_014363.6(SACS):c.961C>T (p.Arg321Ter) rs1175545518
NM_014363.6(SACS):c.9742T>C (p.Trp3248Arg) rs137853018
NM_014363.6(SACS):c.9744G>A (p.Trp3248Ter)
NM_014363.6(SACS):c.9866C>G (p.Ser3289Ter)
NM_014363.6(SACS):c.9956_9957dup (p.Val3320fs)
SACS, 1-BP DEL, 1411T
SACS, 1-BP DEL, 31760T
SACS, 1-BP INS, 1155A
SACS, 10-BP DEL, NT32627

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