ClinVar Miner

List of variants in gene SACS reported as pathogenic for Charlevoix-Saguenay spastic ataxia

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 138
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063 0.00004
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter) rs202199411 0.00003
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter) rs281865118 0.00002
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter) rs750732115 0.00002
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter) rs1057517250 0.00001
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter) rs780247476 0.00001
NM_014363.6(SACS):c.11707C>T (p.Arg3903Ter) rs774906736 0.00001
NM_014363.6(SACS):c.1201C>T (p.Arg401Ter) rs769212398 0.00001
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) rs281865120 0.00001
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter) rs762947018 0.00001
NM_014363.6(SACS):c.3066del (p.Asn1025fs) rs1057516767 0.00001
NM_014363.6(SACS):c.434C>G (p.Ser145Ter) rs994374354 0.00001
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920 0.00001
NM_014363.6(SACS):c.5143A>T (p.Lys1715Ter) rs755824618 0.00001
NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter) rs761089024 0.00001
NM_014363.6(SACS):c.562G>A (p.Gly188Arg) rs780184251 0.00001
NM_014363.6(SACS):c.7205_7206del (p.Leu2402fs) rs773182375 0.00001
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter) rs145766983 0.00001
NM_014363.6(SACS):c.814C>T (p.Arg272Cys) rs374128662 0.00001
NM_014363.6(SACS):c.8844del (p.Ile2949fs) rs281865117 0.00001
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter) rs886041949 0.00001
NM_014363.6(SACS):c.10444_10447del (p.Leu3482fs)
NM_014363.6(SACS):c.10466_10467del (p.Ser3489fs) rs786204416
NM_014363.6(SACS):c.10497C>A (p.Tyr3499Ter) rs755186798
NM_014363.6(SACS):c.10634_10635del (p.Val3545fs) rs2137573354
NM_014363.6(SACS):c.10644del (p.Phe3548fs) rs1555250160
NM_014363.6(SACS):c.10686_10689del (p.Phe3562fs) rs779338945
NM_014363.6(SACS):c.10813A>T (p.Lys3605Ter) rs1360298758
NM_014363.6(SACS):c.10932dup (p.Leu3645fs) rs2137570842
NM_014363.6(SACS):c.10938_10941del (p.Lys3646fs)
NM_014363.6(SACS):c.11012_11013del (p.Gln3671fs)
NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs) rs1400601705
NM_014363.6(SACS):c.11274_11276del (p.Ile3758_Thr3759delinsMet)
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter) rs565203731
NM_014363.6(SACS):c.11601_11604del (p.Lys3867fs)
NM_014363.6(SACS):c.11637_11638del (p.Arg3879fs) rs1593121924
NM_014363.6(SACS):c.1185_1194del (p.Cys395fs) rs2137724246
NM_014363.6(SACS):c.1189dup (p.Ser397fs)
NM_014363.6(SACS):c.11914C>T (p.Arg3972Ter) rs781491486
NM_014363.6(SACS):c.11941C>T (p.Gln3981Ter) rs1593121484
NM_014363.6(SACS):c.12014T>C (p.Leu4005Pro) rs2137561906
NM_014363.6(SACS):c.12106A>T (p.Arg4036Ter) rs2137561134
NM_014363.6(SACS):c.12220G>C (p.Ala4074Pro) rs137853016
NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter) rs141315518
NM_014363.6(SACS):c.12268C>A (p.His4090Asn) rs2137559913
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs) rs1057516365
NM_014363.6(SACS):c.12529dup (p.Tyr4177fs)
NM_014363.6(SACS):c.12538G>T (p.Glu4180Ter) rs2137557832
NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter) rs1555249555
NM_014363.6(SACS):c.12673_12677del (p.Tyr4225fs)
NM_014363.6(SACS):c.12835_12836del (p.Leu4279fs) rs1555249425
NM_014363.6(SACS):c.12839del (p.Phe4280fs) rs1197238841
NM_014363.6(SACS):c.12851_12854del (p.Glu4284fs) rs786204628
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs) rs1057517294
NM_014363.6(SACS):c.13017C>A (p.Asp4339Glu)
NM_014363.6(SACS):c.13176C>G (p.Tyr4392Ter) rs1285760809
NM_014363.6(SACS):c.13319C>A (p.Ser4440Ter)
NM_014363.6(SACS):c.13527dup (p.Glu4510fs) rs797045936
NM_014363.6(SACS):c.1358del (p.Gly453fs) rs2137722808
NM_014363.6(SACS):c.1672C>T (p.Gln558Ter) rs923921184
NM_014363.6(SACS):c.1769_1770del (p.Val590fs) rs1383333220
NM_014363.6(SACS):c.1919_1920del (p.His640fs) rs797045937
NM_014363.6(SACS):c.2060del (p.Asp687fs) rs2137716138
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014363.6(SACS):c.237dup (p.Ser80fs) rs770311689
NM_014363.6(SACS):c.2387del (p.Leu796fs)
NM_014363.6(SACS):c.262C>T (p.Arg88Ter) rs1555255676
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.3161T>C (p.Phe1054Ser) rs137853019
NM_014363.6(SACS):c.3281dup (p.Asn1094fs) rs2137636957
NM_014363.6(SACS):c.3328dup (p.Ile1110fs) rs770866403
NM_014363.6(SACS):c.3427C>T (p.Gln1143Ter) rs144267558
NM_014363.6(SACS):c.3484G>T (p.Glu1162Ter) rs1246013998
NM_014363.6(SACS):c.3585del (p.Ile1195fs) rs2137634136
NM_014363.6(SACS):c.4033dup (p.Gln1345fs) rs606231163
NM_014363.6(SACS):c.4060C>T (p.Gln1354Ter)
NM_014363.6(SACS):c.4103G>T (p.Ser1368Ile) rs1566069517
NM_014363.6(SACS):c.4108C>T (p.Gln1370Ter)
NM_014363.6(SACS):c.414C>G (p.Tyr138Ter) rs199474695
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter) rs867249938
NM_014363.6(SACS):c.4233_4236del (p.Leu1412fs)
NM_014363.6(SACS):c.429_430del (p.Trp144fs)
NM_014363.6(SACS):c.4585C>T (p.Gln1529Ter) rs1555252345
NM_014363.6(SACS):c.4645G>T (p.Glu1549Ter)
NM_014363.6(SACS):c.470_471del (p.Tyr157fs) rs1444216187
NM_014363.6(SACS):c.4718T>G (p.Met1573Arg) rs2137625077
NM_014363.6(SACS):c.4724G>C (p.Arg1575Pro) rs764992284
NM_014363.6(SACS):c.4756_4760del (p.Asn1586fs) rs765361868
NM_014363.6(SACS):c.4835dup (p.Phe1614fs) rs2137624079
NM_014363.6(SACS):c.4933C>T (p.Arg1645Ter) rs770901638
NM_014363.6(SACS):c.4954C>T (p.Gln1652Ter)
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter) rs1057517311
NM_014363.6(SACS):c.5151dup (p.Ser1718fs) rs754439135
NM_014363.6(SACS):c.5263_5264del (p.Lys1755fs) rs199474696
NM_014363.6(SACS):c.5296G>T (p.Glu1766Ter)
NM_014363.6(SACS):c.5428C>T (p.Gln1810Ter) rs1868872666
NM_014363.6(SACS):c.5440_5449del (p.Glu1814fs) rs1566067485
NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter) rs1485209013
NM_014363.6(SACS):c.5761T>G (p.Tyr1921Asp) rs2137616027
NM_014363.6(SACS):c.5824_5827del (p.Tyr1942fs) rs2137615500
NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg) rs137853017
NM_014363.6(SACS):c.6000_6004del (p.Arg2002fs) rs773754134
NM_014363.6(SACS):c.6126C>A (p.Cys2042Ter) rs761655321
NM_014363.6(SACS):c.6172del (p.Ser2058fs) rs1214399996
NM_014363.6(SACS):c.6186dup (p.Pro2063fs) rs2137611917
NM_014363.6(SACS):c.6290del (p.Cys2097fs) rs1868755540
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.6650C>A (p.Pro2217Gln) rs1868700605
NM_014363.6(SACS):c.6663del (p.Lys2221fs) rs1555251699
NM_014363.6(SACS):c.6837dup (p.Glu2280fs) rs748765057
NM_014363.6(SACS):c.6894_6897del (p.Lys2298_Glu2299insTer)
NM_014363.6(SACS):c.699del (p.Asp235fs) rs1415870785
NM_014363.6(SACS):c.7106C>T (p.Pro2369Leu)
NM_014363.6(SACS):c.7110C>G (p.Tyr2370Ter) rs1555251553
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs) rs1555251539
NM_014363.6(SACS):c.7255_7259del (p.Glu2419fs)
NM_014363.6(SACS):c.7274G>C (p.Arg2425Pro) rs771583552
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter) rs786204750
NM_014363.6(SACS):c.8132C>A (p.Ser2711Ter) rs1213203489
NM_014363.6(SACS):c.8227del (p.His2743fs) rs2137593965
NM_014363.6(SACS):c.8239dup (p.Ile2747fs)
NM_014363.6(SACS):c.826C>T (p.Arg276Cys)
NM_014363.6(SACS):c.832C>T (p.Gln278Ter) rs1555254439
NM_014363.6(SACS):c.8621_8624del (p.Ser2874fs) rs753012964
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_014363.6(SACS):c.8793dup (p.Arg2932fs) rs767871841
NM_014363.6(SACS):c.9144del (p.Thr3050fs)
NM_014363.6(SACS):c.914_915del (p.Thr305fs) rs2137726985
NM_014363.6(SACS):c.9272_9275del (p.Ser3091fs)
NM_014363.6(SACS):c.9311del (p.Thr3104fs)
NM_014363.6(SACS):c.961C>T (p.Arg321Ter) rs1175545518
NM_014363.6(SACS):c.9625_9628del (p.Phe3209fs) rs1555250557
NM_014363.6(SACS):c.9742T>C (p.Trp3248Arg) rs137853018
NM_014363.6(SACS):c.9866C>G (p.Ser3289Ter) rs2137580127

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