ClinVar Miner

List of variants studied for cerebellar degeneration by Centogene AG - the Rare Disease Company

Included ClinVar conditions (265):
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ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_006946.4(SPTBN2):c.3116G>A (p.Arg1039Gln) rs148826890 0.00067
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile) rs139170018 0.00054
NM_002739.5(PRKCG):c.1747G>A (p.Val583Met) rs143513754 0.00014
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_006796.3(AFG3L2):c.634G>A (p.Val212Ile) rs201966169 0.00009
NM_182961.4(SYNE1):c.20159A>C (p.Glu6720Ala) rs367790193 0.00009
NM_017686.4(GDAP2):c.946C>T (p.Gln316Ter) rs752352896 0.00006
NM_153816.6(SNX14):c.1108G>T (p.Glu370Ter) rs201128942 0.00004
NM_001001344.3(ATP2B3):c.2357G>A (p.Arg786Gln) rs201426629 0.00003
NM_006796.3(AFG3L2):c.2347C>T (p.Arg783Trp) rs200514577 0.00003
NM_000370.3(TTPA):c.552G>A (p.Thr184=) rs181109321 0.00002
NM_001001344.3(ATP2B3):c.1445G>A (p.Arg482His) rs1557010446 0.00001
NM_001080414.4(CCDC88C):c.1888G>A (p.Ala630Thr) rs773899627 0.00001
NM_001271696.3(ABCB7):c.2066C>T (p.Thr689Ile) rs768257406 0.00001
NM_001961.4(EEF2):c.2241G>A (p.Val747=) rs772173797 0.00001
NM_198994.3(TGM6):c.516A>G (p.Ile172Met) rs779578465 0.00001
NM_000051.4(ATM):c.1065+1G>T rs201089102
NM_000051.4(ATM):c.3503dup (p.Cys1168fs) rs2082209411
NM_000051.4(ATM):c.3680_3683del (p.Thr1227fs) rs2082302853
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001378969.1(KCND3):c.806C>G (p.Pro269Arg) rs2101995994
NM_001447.3(FAT2):c.5237T>C (p.Val1746Ala) rs765754012
NM_002739.5(PRKCG):c.220C>T (p.His74Tyr) rs2122976509
NM_002739.5(PRKCG):c.686+300C>G rs2068681112
NM_005861.4(STUB1):c.154G>A (p.Ala52Thr) rs2151503748
NM_005861.4(STUB1):c.807dup (p.Val270fs) rs2151507049
NM_006796.3(AFG3L2):c.1284G>T (p.Glu428Asp) rs1168932758
NM_006796.3(AFG3L2):c.2114T>C (p.Ile705Thr) rs1598820805
NM_006946.4(SPTBN2):c.5459AGC[5] (p.Gln1823dup) rs1940534700
NM_014687.4(RUBCN):c.2537A>G (p.Asp846Gly) rs2108833855
NM_015215.4(CAMTA1):c.363del (p.Tyr122fs) rs2149302921
NM_018896.5(CACNA1G):c.2850C>G (p.Phe950Leu) rs536992411
NM_018896.5(CACNA1G):c.632T>C (p.Leu211Pro) rs2039524843
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del) rs387906299
NM_020680.4(SCYL1):c.1386+1G>T rs201581270
NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met) rs1554162016
NM_152296.5(ATP1A3):c.2552A>G (p.Gln851Arg) rs2145946065
NM_152296.5(ATP1A3):c.967C>T (p.Pro323Ser) rs864309572
NM_173500.4(TTBK2):c.3329G>T (p.Arg1110Leu) rs146279300

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