ClinVar Miner

List of variants reported as uncertain significance for cerebellar degeneration by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (265):
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ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_006946.4(SPTBN2):c.157+5G>A rs150159444 0.00081
NM_006946.4(SPTBN2):c.1456G>A (p.Ala486Thr) rs143155918 0.00077
NM_001378452.1(ITPR1):c.4421C>T (p.Thr1474Ile) rs188558398 0.00048
NM_003383.5(VLDLR):c.1532A>G (p.Asn511Ser) rs182216426 0.00026
NM_018075.5(ANO10):c.837A>T (p.Arg279Ser) rs374795191 0.00014
NM_001163809.2(WDR81):c.5314C>T (p.Pro1772Ser) rs144021458 0.00006
NM_001378452.1(ITPR1):c.3766G>A (p.Ala1256Thr) rs768179678 0.00004
NM_001447.3(FAT2):c.10673G>A (p.Arg3558Gln) rs137870998 0.00004
NM_022464.5(SIL1):c.902C>T (p.Pro301Leu) rs1478296366 0.00004
NM_001510.4(GRID2):c.899G>A (p.Arg300His) rs201635818 0.00003
NM_015046.7(SETX):c.2755G>C (p.Val919Leu) rs561190371 0.00003
NM_001163809.2(WDR81):c.1907C>A (p.Pro636Gln) rs1203128651 0.00001
NM_006946.4(SPTBN2):c.5611G>A (p.Ala1871Thr) rs752677090 0.00001
NM_007289.4(MME):c.1706A>C (p.Gln569Pro) rs1326179984 0.00001
NM_015046.7(SETX):c.6158A>G (p.Asn2053Ser) rs1429339677 0.00001
NM_017872.5(THG1L):c.137C>A (p.Thr46Asn) rs746295635 0.00001
NM_000051.4(ATM):c.3059C>T (p.Thr1020Ile) rs186626274
NM_001020658.2(PUM1):c.364G>A (p.Val122Met) rs1643312973
NM_001080414.4(CCDC88C):c.2687T>G (p.Leu896Arg) rs1891910013
NM_001163809.2(WDR81):c.482C>T (p.Pro161Leu) rs374149596
NM_001271696.3(ABCB7):c.944+3A>G rs2081385144
NM_001382391.1(CSPP1):c.3341G>A (p.Arg1114His) rs775362535
NM_001447.3(FAT2):c.9835C>G (p.Leu3279Val) rs1363769217
NM_001510.4(GRID2):c.2921T>A (p.Phe974Tyr)
NM_001510.4:c.1246-278_2193+35240del
NM_001510.4:c.790-271_1245+268del
NM_004115.4(FGF14):c.652G>T (p.Val218Phe) rs1432381387
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del) rs779647632
NM_006796.3(AFG3L2):c.244A>C (p.Asn82His) rs1908967089
NM_006946.4(SPTBN2):c.7103T>C (p.Val2368Ala) rs1940076270
NM_012268.4(PLD3):c.615G>A (p.Trp205Ter) rs2079032507
NM_014363.6(SACS):c.2775A>G (p.Ala925=)
NM_014363.6(SACS):c.5621T>C (p.Leu1874Ser) rs1868847058
NM_014363.6(SACS):c.7697A>G (p.Asp2566Gly) rs1868573738
NM_015378.4(VPS13D):c.3353C>T (p.Thr1118Met) rs1436479178
NM_018896.5(CACNA1G):c.354+5GT[13] rs3833150
NM_018896.5(CACNA1G):c.5161A>T (p.Lys1721Ter) rs2050911351
NM_020247.5(COQ8A):c.1805C>G (p.Pro602Arg) rs61995958
NM_021814.5(ELOVL5):c.140G>A (p.Trp47Ter)
NM_152703.5(SAMD9L):c.3353A>G (p.Tyr1118Cys) rs1562789302
NM_173500.4(TTBK2):c.1498C>A (p.Arg500Ser) rs577577749
NM_198994.3(TGM6):c.1352G>C (p.Arg451Thr) rs1265293202

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