ClinVar Miner

List of variants reported as pathogenic for cerebellar degeneration by 3billion, Medical Genetics

Included ClinVar conditions (265):
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ClinVar version:
Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs) rs587781347 0.00004
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) rs780619951 0.00004
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter) rs587779852 0.00004
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_001378615.1(CC2D2A):c.4333C>T (p.Arg1445Ter) rs529437224 0.00003
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp) rs201908721 0.00003
NM_000051.4(ATM):c.67C>T (p.Arg23Ter) rs746235533 0.00002
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys) rs587782292 0.00002
NM_001382391.1(CSPP1):c.2275C>T (p.Arg759Ter) rs771203308 0.00002
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter) rs750732115 0.00002
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter) rs587779815 0.00001
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter) rs762083530 0.00001
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter) rs786204433 0.00001
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) rs564652222 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099 0.00001
NM_001382391.1(CSPP1):c.1186C>T (p.Arg396Ter) rs775285273 0.00001
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.3024_3025del (p.Asn1010fs) rs2135553856
NM_000051.4(ATM):c.331+5G>A rs752135143
NM_000051.4(ATM):c.3695_3713del (p.Ser1232fs)
NM_000051.4(ATM):c.387del (p.Asp130fs) rs745642834
NM_000051.4(ATM):c.5178-1G>A rs1555105579
NM_000051.4(ATM):c.5521_5522del (p.Val1841fs) rs1555107293
NM_000051.4(ATM):c.5650_5657del (p.Thr1884fs) rs1591718522
NM_000051.4(ATM):c.6027C>G (p.Tyr2009Ter) rs1555113567
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter) rs532480170
NM_000051.4(ATM):c.72+2T>C rs1591446206
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.4(ATM):c.7629+1G>A rs1565532703
NM_000051.4(ATM):c.7788G>A (p.Glu2596=) rs587780639
NM_000051.4(ATM):c.8373C>A (p.Tyr2791Ter) rs1060504292
NM_000051.4(ATM):c.8464_8467del (p.Asp2822fs) rs2137027657
NM_000370.3(TTPA):c.744del (p.Glu249fs) rs397515377
NM_001044385.3(TMEM237):c.869+1G>A rs730882231
NM_001127222.2(CACNA1A):c.4494CTT[2] (p.Phe1501del) rs886041279
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys) rs199473690
NM_001134831.2(AHI1):c.1326del (p.Val443fs) rs1788834778
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs) rs1786504555
NM_001134831.2(AHI1):c.1889del (p.Ser630fs) rs1786487832
NM_001278064.2(GRM1):c.1715del (p.Asn572fs)
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001386140.1(MTTP):c.640del (p.Ala214fs) rs2110218614
NM_004977.3(KCNC3):c.1259G>A (p.Arg420His) rs104894699
NM_004977.3(KCNC3):c.1268G>A (p.Arg423His) rs797044872
NM_006796.3(AFG3L2):c.2071G>A (p.Glu691Lys) rs151344520
NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln) rs1554986337
NM_015046.7(SETX):c.4931_4932del (p.Ile1644fs) rs2131428041
NM_015378.4(VPS13D):c.9871+2T>C
NM_016529.6(ATP8A2):c.1272T>G (p.Tyr424Ter)
NM_016529.6(ATP8A2):c.709del (p.Thr237fs) rs2137994737
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018075.5(ANO10):c.96del (p.Glu33fs) rs758937084
NM_018294.6(CWF19L1):c.467del (p.Pro156fs) rs879255654
NM_020680.4(SCYL1):c.1386+1G>A
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771
NM_182961.4(SYNE1):c.8618C>G (p.Ser2873Ter) rs1332414511

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