ClinVar Miner

List of variants reported as uncertain significance for cerebellar degeneration by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (265):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys) rs111619594 0.00089
NM_001379286.1(ZNF423):c.2762C>T (p.Pro921Leu) rs200585917 0.00023
NM_198994.3(TGM6):c.940G>A (p.Val314Met) rs202184911 0.00021
NM_001163809.2(WDR81):c.1072A>G (p.Ser358Gly) rs780969097 0.00020
NM_182961.4(SYNE1):c.25342G>A (p.Asp8448Asn) rs139679692 0.00016
NM_014053.4(FLVCR1):c.1381A>T (p.Thr461Ser) rs749159963 0.00006
NM_015378.4(VPS13D):c.10558G>T (p.Asp3520Tyr) rs148356821 0.00006
NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala) rs202036490 0.00006
NM_001077418.3(TMEM231):c.664+4A>G rs760426025 0.00005
NM_001114748.2(TMEM240):c.346C>T (p.Arg116Cys) rs606231453 0.00005
NM_001044385.3(TMEM237):c.806C>T (p.Ala269Val) rs768672107 0.00003
NM_000784.4(CYP27A1):c.1298G>A (p.Arg433Gln) rs201107032 0.00002
NM_001378615.1(CC2D2A):c.4688C>G (p.Pro1563Arg) rs886059186 0.00002
NM_000051.4(ATM):c.3281A>G (p.Asn1094Ser) rs199883473 0.00001
NM_001001344.3(ATP2B3):c.3626C>A (p.Pro1209His) rs200805504 0.00001
NM_001382391.1(CSPP1):c.2864T>C (p.Met955Thr) rs1162661826 0.00001
NM_014363.6(SACS):c.5732C>T (p.Thr1911Met) rs368494148 0.00001
NM_152703.5(SAMD9L):c.2957G>A (p.Arg986His) rs769611275 0.00001
NM_001001344.3(ATP2B3):c.3241G>C (p.Glu1081Gln)
NM_001001344.3(ATP2B3):c.971A>G (p.Asp324Gly)
NM_001020658.2(PUM1):c.2342G>A (p.Ser781Asn)
NM_001077418.3(TMEM231):c.439A>G (p.Arg147Gly)
NM_001077418.3(TMEM231):c.664+1G>A
NM_001127222.2(CACNA1A):c.3989+3A>G
NM_001127222.2(CACNA1A):c.6937CAG[16] (p.Gln2325_Ala2326insGlnGlnGln)
NM_001128164.2(ATXN1):c.641_642insTCAGCA (p.Gln213_Gln214insHisGln)
NM_001134831.2(AHI1):c.1432T>C (p.Phe478Leu)
NM_001163809.2(WDR81):c.3503A>G (p.Glu1168Gly)
NM_001163809.2(WDR81):c.4879G>A (p.Val1627Met)
NM_001163809.2(WDR81):c.5018G>A (p.Arg1673His)
NM_001278064.2(GRM1):c.1569G>T (p.Val523=)
NM_001278064.2(GRM1):c.950+8TC[22]
NM_001349232.2(ATG7):c.1186G>A (p.Val396Met)
NM_001349232.2(ATG7):c.1478A>G (p.Lys493Arg)
NM_001349232.2(ATG7):c.1532G>C (p.Gly511Ala)
NM_001349232.2(ATG7):c.1535T>C (p.Leu512Pro) rs2152811539
NM_001349232.2(ATG7):c.280G>A (p.Glu94Lys)
NM_001349232.2(ATG7):c.899A>T (p.Lys300Ile)
NM_001365792.1(DAB1):c.319C>T (p.His107Tyr)
NM_001372574.1(ATXN2):c.682T>G (p.Leu228Val)
NM_001378452.1(ITPR1):c.1216A>G (p.Ile406Val)
NM_001378452.1(ITPR1):c.2705C>T (p.Thr902Ile)
NM_001378615.1(CC2D2A):c.3160C>A (p.Pro1054Thr) rs1719718448
NM_001378615.1(CC2D2A):c.3643A>C (p.Ser1215Arg) rs765661601
NM_001378615.1(CC2D2A):c.3992A>G (p.Tyr1331Cys) rs1720848250
NM_001379286.1(ZNF423):c.302A>T (p.Asp101Val)
NM_001386140.1(MTTP):c.1834G>C (p.Gly612Arg)
NM_001386140.1(MTTP):c.2620A>G (p.Asn874Asp) rs2110239476
NM_001447.3(FAT2):c.7018G>A (p.Glu2340Lys)
NM_001510.4(GRID2):c.800A>T (p.Asp267Val)
NM_002522.4(NPTX1):c.396A>C (p.Gln132His)
NM_002739.5(PRKCG):c.1346T>G (p.Leu449Arg)
NM_002913.5(RFC1):c.2936C>T (p.Ala979Val)
NM_003047.5(SLC9A1):c.1273C>T (p.Arg425Cys)
NM_004977.3(KCNC3):c.1951G>C (p.Glu651Gln)
NM_013236.4(ATXN10):c.647+1G>A
NM_014363.6(SACS):c.13540C>T (p.Gln4514Ter) rs1555249133
NM_014363.6(SACS):c.2508del (p.Pro837fs)
NM_014363.6(SACS):c.5711C>G (p.Thr1904Arg) rs758570844
NM_014363.6(SACS):c.7665T>G (p.Asp2555Glu)
NM_014396.4(VPS41):c.1615G>A (p.Val539Ile)
NM_014687.4(RUBCN):c.1786+2595_1786+2596del
NM_015046.7(SETX):c.6638C>T (p.Pro2213Leu) rs28940290
NM_015160.3(PMPCA):c.802C>T (p.Arg268Trp)
NM_015215.4(CAMTA1):c.1420C>T (p.Arg474Trp)
NM_015215.4(CAMTA1):c.2046G>C (p.Gln682His)
NM_015215.4(CAMTA1):c.2840C>T (p.Ser947Leu) rs113652510
NM_015215.4(CAMTA1):c.5021G>C (p.Ter1674Ser)
NM_015215.4(CAMTA1):c.968G>A (p.Arg323His)
NM_015378.4(VPS13D):c.1868A>G (p.Glu623Gly)
NM_015378.4(VPS13D):c.5753T>C (p.Ile1918Thr)
NM_016464.5(TMEM138):c.401A>G (p.Tyr134Cys)
NM_016529.6(ATP8A2):c.1669C>T (p.Gln557Ter)
NM_017686.4(GDAP2):c.1291T>G (p.Phe431Val)
NM_017872.5(THG1L):c.881T>C (p.Leu294Pro) rs1581444231
NM_018896.5(CACNA1G):c.4318G>A (p.Val1440Met)
NM_020247.5(COQ8A):c.1014del (p.Ala339fs)
NM_022464.5(SIL1):c.215C>T (p.Pro72Leu)
NM_032025.5(EIF2A):c.1229A>C (p.Gln410Pro)
NM_152703.5(SAMD9L):c.1120del (p.Leu373_Val374insTer)
NM_152703.5(SAMD9L):c.1789A>G (p.Arg597Gly)
NM_152703.5(SAMD9L):c.3457C>A (p.Leu1153Ile)
NM_152703.5(SAMD9L):c.3467C>A (p.Ala1156Glu)
NM_152703.5(SAMD9L):c.901G>C (p.Asp301His)
NM_153704.6(TMEM67):c.232T>G (p.Cys78Gly)
NM_153816.6(SNX14):c.1809A>G (p.Ala603=) rs1582696313
NM_182961.4(SYNE1):c.18646_18654del (p.Leu6216_Gln6218del)
NM_182961.4(SYNE1):c.20762G>T (p.Ser6921Ile)
NM_182961.4(SYNE1):c.662G>A (p.Arg221Gln)
NM_198994.3(TGM6):c.1833+1G>T

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