ClinVar Miner

List of variants in gene SACS reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 140
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr) rs149638449 0.00071
NM_014363.6(SACS):c.2602A>G (p.Ile868Val) rs142284018 0.00040
NM_014363.6(SACS):c.5583G>C (p.Trp1861Cys) rs140678034 0.00032
NM_014363.6(SACS):c.439G>C (p.Asp147His) rs202226274 0.00031
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr) rs147949881 0.00022
NM_014363.6(SACS):c.9275A>T (p.Tyr3092Phe) rs139579036 0.00020
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys) rs61754478 0.00019
NM_014363.6(SACS):c.2492A>G (p.Glu831Gly) rs375968367 0.00017
NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys) rs138379074 0.00017
NM_014363.6(SACS):c.4936C>A (p.Leu1646Met) rs200810800 0.00011
NM_014363.6(SACS):c.5903C>T (p.Ala1968Val) rs201866523 0.00011
NM_014363.6(SACS):c.1255A>G (p.Ile419Val) rs767818359 0.00009
NM_014363.6(SACS):c.13735G>A (p.Val4579Met) rs571999908 0.00008
NM_014363.6(SACS):c.175T>A (p.Ser59Thr) rs539836931 0.00007
NM_014363.6(SACS):c.6178G>C (p.Val2060Leu) rs373226693 0.00007
NM_014363.6(SACS):c.10709T>C (p.Ile3570Thr) rs763440838 0.00006
NM_014363.6(SACS):c.11717C>T (p.Ala3906Val) rs375961779 0.00006
NM_014363.6(SACS):c.12190C>A (p.Pro4064Thr) rs200707453 0.00006
NM_014363.6(SACS):c.2788A>G (p.Ile930Val) rs886050088 0.00006
NM_014363.6(SACS):c.11363G>A (p.Arg3788His) rs147369196 0.00005
NM_014363.6(SACS):c.11161G>A (p.Gly3721Ser) rs780789569 0.00004
NM_014363.6(SACS):c.12367A>G (p.Met4123Val) rs772068772 0.00004
NM_014363.6(SACS):c.1259T>C (p.Ile420Thr) rs761791412 0.00004
NM_014363.6(SACS):c.4724G>A (p.Arg1575Gln) rs764992284 0.00004
NM_014363.6(SACS):c.6095C>T (p.Ser2032Leu) rs551141655 0.00004
NM_014363.6(SACS):c.9031A>G (p.Ile3011Val) rs377657177 0.00004
NM_014363.6(SACS):c.10255C>T (p.Arg3419Cys) rs765758197 0.00003
NM_014363.6(SACS):c.13621T>A (p.Leu4541Met) rs769260277 0.00003
NM_014363.6(SACS):c.8693G>A (p.Arg2898His) rs201977288 0.00003
NM_014363.6(SACS):c.11302A>G (p.Thr3768Ala) rs774463808 0.00002
NM_014363.6(SACS):c.11942A>G (p.Gln3981Arg) rs747314113 0.00002
NM_014363.6(SACS):c.2791A>T (p.Asn931Tyr) rs190383030 0.00002
NM_014363.6(SACS):c.7988C>T (p.Pro2663Leu) rs377626385 0.00002
NM_014363.6(SACS):c.10415A>G (p.Asp3472Gly) rs759801095 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.11899C>G (p.Gln3967Glu) rs1261408099 0.00001
NM_014363.6(SACS):c.2581C>T (p.His861Tyr) rs759265754 0.00001
NM_014363.6(SACS):c.2585C>T (p.Pro862Leu) rs776290829 0.00001
NM_014363.6(SACS):c.3261A>C (p.Leu1087Phe) rs1417936142 0.00001
NM_014363.6(SACS):c.475T>C (p.Tyr159His) rs1305721973 0.00001
NM_014363.6(SACS):c.5045G>A (p.Arg1682Lys) rs1269546947 0.00001
NM_014363.6(SACS):c.6383A>G (p.Asp2128Gly) rs762352013 0.00001
NM_014363.6(SACS):c.7100C>T (p.Ala2367Val) rs752273313 0.00001
NM_014363.6(SACS):c.10063A>G (p.Ile3355Val)
NM_014363.6(SACS):c.10518T>G (p.Ser3506Arg)
NM_014363.6(SACS):c.10730C>A (p.Thr3577Lys)
NM_014363.6(SACS):c.10880T>G (p.Ile3627Ser)
NM_014363.6(SACS):c.11317T>G (p.Leu3773Val)
NM_014363.6(SACS):c.11561T>C (p.Val3854Ala)
NM_014363.6(SACS):c.11623C>T (p.Arg3875Cys)
NM_014363.6(SACS):c.11926A>C (p.Ser3976Arg)
NM_014363.6(SACS):c.11976T>G (p.Phe3992Leu)
NM_014363.6(SACS):c.12256C>A (p.Leu4086Ile)
NM_014363.6(SACS):c.12257T>G (p.Leu4086Arg)
NM_014363.6(SACS):c.12286A>G (p.Ile4096Val)
NM_014363.6(SACS):c.12404A>G (p.Lys4135Arg)
NM_014363.6(SACS):c.12440A>T (p.Glu4147Val)
NM_014363.6(SACS):c.12465G>C (p.Met4155Ile)
NM_014363.6(SACS):c.12533C>T (p.Pro4178Leu)
NM_014363.6(SACS):c.12673T>C (p.Tyr4225His)
NM_014363.6(SACS):c.12673_12677del (p.Tyr4225fs)
NM_014363.6(SACS):c.12842C>G (p.Ser4281Cys)
NM_014363.6(SACS):c.12899T>A (p.Val4300Asp)
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs) rs1057517294
NM_014363.6(SACS):c.13112A>G (p.Asn4371Ser)
NM_014363.6(SACS):c.13295T>C (p.Phe4432Ser)
NM_014363.6(SACS):c.1363G>A (p.Glu455Lys)
NM_014363.6(SACS):c.13646A>G (p.Asn4549Ser)
NM_014363.6(SACS):c.1627G>A (p.Val543Met) rs752705095
NM_014363.6(SACS):c.1642G>A (p.Val548Met)
NM_014363.6(SACS):c.1706G>A (p.Trp569Ter) rs1555254256
NM_014363.6(SACS):c.1837C>G (p.Gln613Glu)
NM_014363.6(SACS):c.1853C>T (p.Ser618Phe)
NM_014363.6(SACS):c.1859C>T (p.Thr620Ile)
NM_014363.6(SACS):c.2104C>T (p.Pro702Ser)
NM_014363.6(SACS):c.2276A>G (p.Glu759Gly)
NM_014363.6(SACS):c.2926C>T (p.Arg976Cys) rs139993038
NM_014363.6(SACS):c.2940G>T (p.Met980Ile)
NM_014363.6(SACS):c.3059dup (p.Ser1021fs) rs1869136727
NM_014363.6(SACS):c.3193T>C (p.Phe1065Leu)
NM_014363.6(SACS):c.328G>A (p.Gly110Arg)
NM_014363.6(SACS):c.3356del (p.Pro1119fs) rs1057517039
NM_014363.6(SACS):c.346-5G>A rs80258644
NM_014363.6(SACS):c.3730G>C (p.Asp1244His)
NM_014363.6(SACS):c.3883A>G (p.Ile1295Val)
NM_014363.6(SACS):c.3917A>G (p.Asn1306Ser)
NM_014363.6(SACS):c.3994A>G (p.Ile1332Val)
NM_014363.6(SACS):c.4036G>C (p.Asp1346His) rs753529923
NM_014363.6(SACS):c.4114C>A (p.Pro1372Thr)
NM_014363.6(SACS):c.4276A>G (p.Ile1426Val)
NM_014363.6(SACS):c.470A>G (p.Tyr157Cys)
NM_014363.6(SACS):c.4784A>G (p.Lys1595Arg)
NM_014363.6(SACS):c.5006T>C (p.Ile1669Thr)
NM_014363.6(SACS):c.5035T>A (p.Cys1679Ser)
NM_014363.6(SACS):c.5077A>G (p.Met1693Val)
NM_014363.6(SACS):c.5151dup (p.Ser1718fs) rs754439135
NM_014363.6(SACS):c.5309T>G (p.Val1770Gly)
NM_014363.6(SACS):c.5336C>T (p.Ser1779Leu)
NM_014363.6(SACS):c.5468G>C (p.Cys1823Ser)
NM_014363.6(SACS):c.5470A>G (p.Met1824Val)
NM_014363.6(SACS):c.5642G>C (p.Gly1881Ala)
NM_014363.6(SACS):c.5678C>T (p.Thr1893Ile)
NM_014363.6(SACS):c.5711C>G (p.Thr1904Arg) rs758570844
NM_014363.6(SACS):c.5984A>T (p.Asp1995Val)
NM_014363.6(SACS):c.6139C>A (p.Leu2047Ile)
NM_014363.6(SACS):c.6202A>G (p.Ile2068Val)
NM_014363.6(SACS):c.6469G>A (p.Asp2157Asn)
NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala) rs556248979
NM_014363.6(SACS):c.6641G>T (p.Arg2214Leu)
NM_014363.6(SACS):c.6877G>C (p.Val2293Leu)
NM_014363.6(SACS):c.7052A>G (p.Asn2351Ser)
NM_014363.6(SACS):c.7139del (p.Asn2380fs) rs1057516689
NM_014363.6(SACS):c.7163C>T (p.Thr2388Ile)
NM_014363.6(SACS):c.7207G>A (p.Val2403Ile)
NM_014363.6(SACS):c.7223A>G (p.Asp2408Gly)
NM_014363.6(SACS):c.7277G>A (p.Arg2426Gln)
NM_014363.6(SACS):c.7466C>G (p.Pro2489Arg)
NM_014363.6(SACS):c.7724T>C (p.Ile2575Thr)
NM_014363.6(SACS):c.7898C>T (p.Thr2633Ile) rs1555251295
NM_014363.6(SACS):c.7996A>C (p.Met2666Leu)
NM_014363.6(SACS):c.8006A>G (p.Asp2669Gly)
NM_014363.6(SACS):c.8026A>G (p.Thr2676Ala)
NM_014363.6(SACS):c.8027C>G (p.Thr2676Arg)
NM_014363.6(SACS):c.8053T>C (p.Tyr2685His)
NM_014363.6(SACS):c.8288A>G (p.Tyr2763Cys)
NM_014363.6(SACS):c.8692C>T (p.Arg2898Cys)
NM_014363.6(SACS):c.877C>A (p.Leu293Ile)
NM_014363.6(SACS):c.8842C>T (p.Pro2948Ser)
NM_014363.6(SACS):c.8861A>G (p.Asp2954Gly)
NM_014363.6(SACS):c.9052T>C (p.Ser3018Pro)
NM_014363.6(SACS):c.9076T>A (p.Phe3026Ile)
NM_014363.6(SACS):c.9122C>A (p.Ala3041Glu)
NM_014363.6(SACS):c.9482G>A (p.Ser3161Asn)
NM_014363.6(SACS):c.9692G>T (p.Cys3231Phe)
NM_014363.6(SACS):c.974G>A (p.Gly325Glu)
NM_014363.6(SACS):c.9769G>T (p.Val3257Leu)
NM_014363.6(SACS):c.980A>C (p.Glu327Ala)
NM_014363.6(SACS):c.9821C>G (p.Thr3274Ser)
NM_014363.6(SACS):c.9896A>C (p.Asp3299Ala)

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