ClinVar Miner

List of variants reported as likely benign for cerebellar degeneration by Illumina Laboratory Services, Illumina

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 195
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HGVS dbSNP gnomAD frequency
NM_006946.4(SPTBN2):c.585C>T (p.Asn195=) rs34775878 0.08024
NM_173500.4(TTBK2):c.*482C>G rs16957120 0.06388
NM_006946.4(SPTBN2):c.4899G>A (p.Leu1633=) rs639938 0.06187
NM_006946.4(SPTBN2):c.5340C>T (p.Asn1780=) rs623022 0.04821
NM_004115.4(FGF14):c.*1664_*1666del rs141424596 0.04549
NM_002739.5(PRKCG):c.285C>T (p.Asp95=) rs17854523 0.03329
NM_173500.4(TTBK2):c.*583A>T rs116853892 0.02725
NM_173500.4(TTBK2):c.*678A>G rs78237254 0.02688
NM_006946.4(SPTBN2):c.5639G>A (p.Arg1880His) rs35532855 0.01604
NM_006946.4(SPTBN2):c.234G>A (p.Val78=) rs78309877 0.01155
NM_006946.4(SPTBN2):c.1011T>G (p.Leu337=) rs34275473 0.01154
NM_006946.4(SPTBN2):c.*364C>T rs11828658 0.01074
NM_006946.4(SPTBN2):c.7020G>A (p.Pro2340=) rs61741217 0.00966
NM_006946.4(SPTBN2):c.285C>T (p.Leu95=) rs34117933 0.00956
NM_006946.4(SPTBN2):c.3686A>G (p.His1229Arg) rs114788199 0.00819
NM_006946.4(SPTBN2):c.6669G>A (p.Gly2223=) rs138819654 0.00560
NM_000784.4(CYP27A1):c.921G>A (p.Val307=) rs147975335 0.00559
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met) rs2229381 0.00498
NM_006946.4(SPTBN2):c.3282G>A (p.Pro1094=) rs114241603 0.00477
NM_198994.3(TGM6):c.-2A>G rs80329336 0.00475
NM_006946.4(SPTBN2):c.4447C>T (p.Arg1483Cys) rs115062978 0.00441
NM_173500.4(TTBK2):c.*1311G>A rs148272721 0.00429
NM_004115.4(FGF14):c.*1259C>T rs535930764 0.00357
NM_006946.4(SPTBN2):c.1161C>T (p.Arg387=) rs74909073 0.00352
NM_006946.4(SPTBN2):c.*546T>C rs539068045 0.00285
NM_004115.4(FGF14):c.*1118G>A rs147404825 0.00250
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=) rs75897848 0.00225
NM_006946.4(SPTBN2):c.1221C>T (p.His407=) rs143596433 0.00212
NM_006796.3(AFG3L2):c.98A>C (p.Gln33Pro) rs777868371 0.00211
NM_006946.4(SPTBN2):c.2526C>T (p.Gly842=) rs144939155 0.00173
NM_006946.4(SPTBN2):c.1434C>T (p.Ser478=) rs35463342 0.00168
NM_006946.4(SPTBN2):c.3429A>G (p.Leu1143=) rs35370566 0.00168
NM_024411.5(PDYN):c.*1238A>T rs187098720 0.00163
NM_173500.4(TTBK2):c.*1463G>A rs571544379 0.00160
NM_006946.4(SPTBN2):c.1807+13C>T rs151122248 0.00132
NM_001378452.1(ITPR1):c.4843-8C>T rs41304179 0.00119
NM_001378452.1(ITPR1):c.*1198C>T rs367636150 0.00102
NM_006946.4(SPTBN2):c.1972C>T (p.Arg658Trp) rs199968321 0.00102
NM_006946.4(SPTBN2):c.1722G>A (p.Glu574=) rs143083152 0.00100
NM_001378452.1(ITPR1):c.3057A>G (p.Ser1019=) rs200705345 0.00090
NM_006946.4(SPTBN2):c.157+5G>A rs150159444 0.00081
NM_024411.4(PDYN):c.-382C>T rs188187030 0.00081
NM_001376.5(DYNC1H1):c.2719-6C>T rs199763298 0.00078
NM_006946.4(SPTBN2):c.3116G>A (p.Arg1039Gln) rs148826890 0.00067
NM_001376.5(DYNC1H1):c.*194C>T rs566606862 0.00064
NM_001378452.1(ITPR1):c.6912G>A (p.Pro2304=) rs200426774 0.00063
NM_006946.4(SPTBN2):c.6751C>T (p.Arg2251Trp) rs150607879 0.00061
NM_001376.5(DYNC1H1):c.12258C>T (p.Thr4086=) rs141242095 0.00059
NM_001376.5(DYNC1H1):c.5050-15T>C rs190979027 0.00059
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=) rs140841480 0.00059
NM_001376.5(DYNC1H1):c.10440G>A (p.Lys3480=) rs138887857 0.00056
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=) rs149753029 0.00056
NM_198994.3(TGM6):c.1011G>A (p.Glu337=) rs142832802 0.00056
NM_006946.4(SPTBN2):c.-22-10C>A rs200435327 0.00054
NM_001376.5(DYNC1H1):c.345-10T>G rs202110844 0.00053
NM_001378452.1(ITPR1):c.4421C>T (p.Thr1474Ile) rs188558398 0.00048
NM_001378452.1(ITPR1):c.66G>A (p.Ser22=) rs112944532 0.00048
NM_198994.3(TGM6):c.1452C>T (p.Asp484=) rs142748417 0.00046
NM_001376.5(DYNC1H1):c.10908+10G>A rs201277756 0.00045
NM_001378452.1(ITPR1):c.2732C>T (p.Ala911Val) rs201519806 0.00044
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met) rs149300055 0.00042
NM_173500.4(TTBK2):c.3021A>G (p.Leu1007=) rs201662235 0.00038
NM_001378452.1(ITPR1):c.4474G>A (p.Val1492Ile) rs200646875 0.00037
NM_198994.3(TGM6):c.622G>A (p.Val208Met) rs61743614 0.00037
NM_006946.4(SPTBN2):c.1719C>T (p.His573=) rs148207416 0.00036
NM_001376.5(DYNC1H1):c.11596-7G>A rs375593873 0.00034
NM_001378452.1(ITPR1):c.7098C>T (p.Gly2366=) rs41290672 0.00034
NM_173500.4(TTBK2):c.*185A>G rs376104201 0.00034
NM_198994.3(TGM6):c.1690C>T (p.Pro564Ser) rs200674917 0.00034
NM_001376.5(DYNC1H1):c.9762+9T>G rs376545350 0.00033
NM_004115.4(FGF14):c.123C>T (p.Asn41=) rs372705140 0.00033
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094 0.00032
NM_001378452.1(ITPR1):c.141C>T (p.Asn47=) rs370939479 0.00031
NM_001378452.1(ITPR1):c.7986C>T (p.Thr2662=) rs368405302 0.00029
NM_004115.4(FGF14):c.384T>C (p.Asn128=) rs41281646 0.00029
NM_173500.4(TTBK2):c.1555G>C (p.Ala519Pro) rs200124857 0.00029
NM_198994.3(TGM6):c.277A>G (p.Met93Val) rs146529216 0.00029
NM_000784.4(CYP27A1):c.*47G>A rs140059093 0.00028
NM_001378452.1(ITPR1):c.5766T>C (p.Asp1922=) rs201311531 0.00027
NM_198994.3(TGM6):c.38G>A (p.Arg13Gln) rs201694328 0.00027
NM_001376.5(DYNC1H1):c.-13C>G rs537857759 0.00026
NM_002739.5(PRKCG):c.1281+9G>C rs370400523 0.00024
NM_173500.4(TTBK2):c.595C>T (p.Arg199Trp) rs200125366 0.00024
NM_001376.5(DYNC1H1):c.13149C>T (p.Thr4383=) rs375767483 0.00023
NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=) rs138571942 0.00023
NM_001376.5(DYNC1H1):c.1704T>C (p.Leu568=) rs192959810 0.00021
NM_001376.5(DYNC1H1):c.9093G>A (p.Thr3031=) rs145208135 0.00021
NM_001378452.1(ITPR1):c.7389C>T (p.Phe2463=) rs200487406 0.00021
NM_002222.6(ITPR1):c.*1611G>A rs565800630 0.00021
NM_002739.5(PRKCG):c.711G>T (p.Glu237Asp) rs116236420 0.00021
NM_001378452.1(ITPR1):c.2111G>C (p.Ser704Thr) rs373694009 0.00019
NM_173500.4(TTBK2):c.-51C>T rs374364415 0.00019
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737 0.00016
NM_001378452.1(ITPR1):c.1951C>T (p.Leu651=) rs375234629 0.00016
NM_006946.4(SPTBN2):c.5031C>T (p.Ala1677=) rs201752194 0.00016
NM_173500.4(TTBK2):c.3543G>A (p.Ser1181=) rs199635198 0.00016
NM_198994.3(TGM6):c.-42C>T rs376489998 0.00016
NM_001376.5(DYNC1H1):c.13359C>T (p.Asn4453=) rs140033479 0.00014
NM_001378452.1(ITPR1):c.1034G>A (p.Arg345Gln) rs201804963 0.00014
NM_001378452.1(ITPR1):c.2616G>A (p.Arg872=) rs375533002 0.00014
NM_006796.2(AFG3L2):c.-206C>A rs564906201 0.00014
NM_006796.2(AFG3L2):c.-207T>A rs533486310 0.00014
NM_198994.3(TGM6):c.379C>T (p.Arg127Trp) rs148854519 0.00014
NM_001376.5(DYNC1H1):c.12075C>T (p.Leu4025=) rs373636519 0.00013
NM_001378452.1(ITPR1):c.6180+11T>A rs772860677 0.00013
NM_002739.5(PRKCG):c.822-14C>T rs367639661 0.00013
NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg) rs139842853 0.00011
NM_001376.5(DYNC1H1):c.9324A>G (p.Glu3108=) rs142338762 0.00011
NM_001378452.1(ITPR1):c.1886+14G>A rs370584403 0.00011
NM_001378452.1(ITPR1):c.2299C>T (p.Arg767Cys) rs377248442 0.00011
NM_001378452.1(ITPR1):c.3457A>G (p.Met1153Val) rs199698357 0.00011
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met) rs200604732 0.00010
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=) rs149902566 0.00010
NM_002739.5(PRKCG):c.*84C>A rs995740073 0.00010
NM_024411.5(PDYN):c.483C>G (p.Leu161=) rs773513924 0.00010
NM_198994.3(TGM6):c.951C>T (p.Phe317=) rs201333931 0.00010
NM_001376.5(DYNC1H1):c.13782G>A (p.Lys4594=) rs147580834 0.00009
NM_006946.4(SPTBN2):c.249C>T (p.Ser83=) rs141552965 0.00009
NM_024411.5(PDYN):c.*33A>C rs556095353 0.00009
NM_001376.5(DYNC1H1):c.10992C>T (p.Leu3664=) rs368621706 0.00008
NM_002739.5(PRKCG):c.940-3C>T rs377593245 0.00008
NM_006946.4(SPTBN2):c.5950-9C>T rs554781314 0.00008
NM_173500.4(TTBK2):c.3420A>G (p.Pro1140=) rs201347313 0.00008
NM_001376.5(DYNC1H1):c.10506C>A (p.Thr3502=) rs548760128 0.00007
NM_001378452.1(ITPR1):c.5335G>A (p.Gly1779Ser) rs369108656 0.00007
NM_001376.5(DYNC1H1):c.13675G>A (p.Gly4559Arg) rs761881469 0.00006
NM_002739.5(PRKCG):c.1730C>T (p.Ser577Leu) rs551805527 0.00006
NM_006796.3(AFG3L2):c.1065G>A (p.Thr355=) rs139181972 0.00006
NM_024411.5(PDYN):c.520C>T (p.Arg174Cys) rs567558964 0.00006
NM_173500.4(TTBK2):c.*33A>C rs149561490 0.00006
NM_001378452.1(ITPR1):c.693C>T (p.Asp231=) rs545754582 0.00005
NM_002739.5(PRKCG):c.441C>T (p.Pro147=) rs764546467 0.00005
NM_004115.4(FGF14):c.261C>T (p.Pro87=) rs757210660 0.00005
NM_006946.4(SPTBN2):c.6266G>A (p.Arg2089Lys) rs569905004 0.00005
NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=) rs374214760 0.00004
NM_001376.5(DYNC1H1):c.13152G>A (p.Ala4384=) rs536121075 0.00004
NM_001376.5(DYNC1H1):c.7821C>T (p.Ser2607=) rs375547282 0.00004
NM_001378452.1(ITPR1):c.3195C>T (p.His1065=) rs745351516 0.00004
NM_004115.4(FGF14):c.*1741T>C rs529644559 0.00004
NM_006946.4(SPTBN2):c.6035-12C>T rs2276137 0.00004
NM_006946.4(SPTBN2):c.924G>C (p.Glu308Asp) rs564046722 0.00004
NM_173500.4(TTBK2):c.2831G>A (p.Arg944Gln) rs201348630 0.00004
NM_198994.3(TGM6):c.595G>A (p.Gly199Ser) rs182249285 0.00004
NM_001376.5(DYNC1H1):c.1861G>A (p.Asp621Asn) rs755333803 0.00003
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=) rs754446530 0.00003
NM_006796.3(AFG3L2):c.1426+9A>T rs377339236 0.00003
NM_006796.3(AFG3L2):c.718C>T (p.Arg240Trp) rs768999765 0.00003
NM_173500.4(TTBK2):c.2278C>T (p.Pro760Ser) rs117382379 0.00003
NM_198994.3(TGM6):c.621C>A (p.Asp207Glu) rs148696208 0.00003
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr) rs141925609 0.00002
NM_001376.5(DYNC1H1):c.13151C>T (p.Ala4384Val) rs201971718 0.00002
NM_001376.5(DYNC1H1):c.2071A>C (p.Met691Leu) rs745510694 0.00002
NM_001378452.1(ITPR1):c.3514C>G (p.Pro1172Ala) rs773251870 0.00002
NM_024411.5(PDYN):c.456C>T (p.Asn152=) rs148113209 0.00002
NM_173500.4(TTBK2):c.2525A>G (p.Glu842Gly) rs202004988 0.00002
NM_198994.3(TGM6):c.717G>A (p.Gln239=) rs201506281 0.00002
NM_198994.3(TGM6):c.850+4C>T rs765181893 0.00002
NM_001376.5(DYNC1H1):c.11497C>T (p.Leu3833=) rs200735835 0.00001
NM_001376.5(DYNC1H1):c.432G>A (p.Ser144=) rs533327200 0.00001
NM_001376.5(DYNC1H1):c.4331C>T (p.Ala1444Val) rs141561289 0.00001
NM_001376.5(DYNC1H1):c.5472C>T (p.Ser1824=) rs769577090 0.00001
NM_001376.5(DYNC1H1):c.7200C>A (p.Gly2400=) rs549582489 0.00001
NM_001376.5(DYNC1H1):c.7420G>A (p.Ala2474Thr) rs766837403 0.00001
NM_001378452.1(ITPR1):c.1497C>T (p.Phe499=) rs778521012 0.00001
NM_002739.5(PRKCG):c.*48G>A rs775600229 0.00001
NM_006796.3(AFG3L2):c.1089A>G (p.Gly363=) rs747246135 0.00001
NM_006796.3(AFG3L2):c.2035C>T (p.Arg679Cys) rs551015841 0.00001
NM_006796.3(AFG3L2):c.2175+14G>A rs758755215 0.00001
NM_198994.3(TGM6):c.1478C>T (p.Pro493Leu) rs776319756 0.00001
NM_198994.3(TGM6):c.390C>T (p.Gly130=) rs751704232 0.00001
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val) rs59443548
NM_001376.5(DYNC1H1):c.13203C>T (p.Thr4401=) rs138022242
NM_001378452.1(ITPR1):c.*356TG[1] rs113825412
NM_001378452.1(ITPR1):c.*814_*817dup rs148070806
NM_001378452.1(ITPR1):c.-2A>G rs369723935
NM_001378452.1(ITPR1):c.2427G>A (p.Ser809=) rs553559062
NM_001378452.1(ITPR1):c.4992-7del rs546612625
NM_001378452.1(ITPR1):c.8190+13_8190+14del rs552585900
NM_002222.6(ITPR1):c.*1366C>A rs146958900
NM_002739.5(PRKCG):c.*59dup rs144706041
NM_004115.4(FGF14):c.*1058_*1062dup rs577253536
NM_004115.4(FGF14):c.*1445_*1446dup rs141506954
NM_004115.4(FGF14):c.*176dup rs144061152
NM_004115.4(FGF14):c.*1886_*1889dup rs559888067
NM_004115.4(FGF14):c.*794GT[4] rs371464074
NM_006796.3(AFG3L2):c.215-11_215-6del rs533823759
NM_006796.3(AFG3L2):c.293-14_293-13del rs556473698
NM_024411.5(PDYN):c.405C>T (p.Asp135=) rs147181436
NM_173500.4(TTBK2):c.-281GCC[5] rs377202784
NM_173500.4(TTBK2):c.1499G>T (p.Arg500Leu) rs56039839
NM_173500.4(TTBK2):c.2980G>T (p.Asp994Tyr) rs377620628
NM_198994.3(TGM6):c.1653C>T (p.His551=) rs755072071
NM_198994.3(TGM6):c.1953_1955dup (p.Gln652dup) rs557817405
NM_198994.3(TGM6):c.303C>T (p.Leu101=) rs757250219

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