ClinVar Miner

List of variants reported as uncertain significance for cerebellar degeneration by Baylor Genetics

Included ClinVar conditions (79):
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ClinVar version:
Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile) rs146571352 0.00109
NM_015215.4(CAMTA1):c.1559G>A (p.Arg520Gln) rs138288107 0.00016
NM_018896.5(CACNA1G):c.1654T>C (p.Ser552Pro) rs527612343 0.00009
NM_018896.5(CACNA1G):c.2407A>C (p.Ile803Leu) rs747028553 0.00008
NM_001278064.2(GRM1):c.1165A>C (p.Asn389His) rs769064791 0.00007
NM_001080414.4(CCDC88C):c.3170A>G (p.Asp1057Gly) rs548699524 0.00006
NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser) rs751947412 0.00006
NM_033109.5(PNPT1):c.493C>T (p.Pro165Ser) rs151166046 0.00006
NM_015215.4(CAMTA1):c.718G>A (p.Val240Met) rs755920468 0.00005
NM_001080414.4(CCDC88C):c.786G>T (p.Arg262Ser) rs368545314 0.00004
NM_015215.4(CAMTA1):c.4977G>T (p.Arg1659Ser) rs373331254 0.00004
NM_015215.4(CAMTA1):c.3892C>T (p.Arg1298Trp) rs145964068 0.00003
NM_001127222.2(CACNA1A):c.7067C>T (p.Thr2356Met) rs780098532 0.00002
NM_001130823.3(DNMT1):c.3353A>G (p.His1118Arg) rs150331990 0.00002
NM_001378452.1(ITPR1):c.4541G>A (p.Arg1514His) rs749048534 0.00002
NM_018896.5(CACNA1G):c.4028G>A (p.Arg1343Gln) rs1295882768 0.00002
NM_001080414.4(CCDC88C):c.3020G>A (p.Cys1007Tyr) rs917595672 0.00001
NM_001080414.4(CCDC88C):c.932A>G (p.Tyr311Cys) rs751049970 0.00001
NM_001130823.3(DNMT1):c.4492G>A (p.Gly1498Ser) rs768764350 0.00001
NM_001378452.1(ITPR1):c.3026G>A (p.Arg1009Gln) rs1574832115 0.00001
NM_001378452.1(ITPR1):c.3206C>T (p.Thr1069Ile) rs747698039 0.00001
NM_003194.5(TBP):c.410C>T (p.Pro137Leu) rs142540266 0.00001
NM_006946.4(SPTBN2):c.1973G>A (p.Arg658Gln) rs753491527 0.00001
NM_006946.4(SPTBN2):c.773-5T>C rs1941832250 0.00001
NM_015215.4(CAMTA1):c.940G>A (p.Glu314Lys) rs758739555 0.00001
NM_000784.4(CYP27A1):c.614T>C (p.Met205Thr) rs1943727741
NM_001020658.2(PUM1):c.1444G>A (p.Ala482Thr) rs1017436032
NM_001020658.2(PUM1):c.949A>C (p.Asn317His) rs2124486243
NM_001080414.4(CCDC88C):c.2845G>A (p.Asp949Asn)
NM_001127222.2(CACNA1A):c.709A>G (p.Ile237Val) rs2059190094
NM_001278064.2(GRM1):c.2867A>T (p.Asn956Ile) rs1212150882
NM_001378452.1(ITPR1):c.1176C>G (p.His392Gln) rs2093820776
NM_001378452.1(ITPR1):c.319A>G (p.Asn107Asp) rs2093283649
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met) rs797044955
NM_001378969.1(KCND3):c.1856C>T (p.Thr619Ile)
NM_001447.3(FAT2):c.1653del (p.Leu552fs)
NM_001940.4(ATN1):c.1604C>A (p.Ser535Tyr)
NM_002739.5(PRKCG):c.1210G>A (p.Ala404Thr) rs769292201
NM_002739.5(PRKCG):c.1712C>G (p.Thr571Ser)
NM_004977.3(KCNC3):c.1255G>A (p.Val419Ile)
NM_004977.3(KCNC3):c.140G>A (p.Gly47Asp) rs2037143763
NM_004977.3(KCNC3):c.1822A>G (p.Thr608Ala)
NM_006392.4(NOP56):c.1475A>G (p.Gln492Arg) rs2086850165
NM_006796.3(AFG3L2):c.53G>T (p.Gly18Val) rs866272063
NM_006946.4(SPTBN2):c.1549C>G (p.Arg517Gly) rs371919862
NM_006946.4(SPTBN2):c.2012G>A (p.Arg671Gln) rs1443491358
NM_006946.4(SPTBN2):c.3777-3C>G
NM_015215.4(CAMTA1):c.1187G>A (p.Ser396Asn) rs2095980355
NM_015215.4(CAMTA1):c.2470T>C (p.Cys824Arg) rs2095989201
NM_015215.4(CAMTA1):c.2810T>C (p.Val937Ala) rs2096135808
NM_015215.4(CAMTA1):c.4489G>C (p.Glu1497Gln)
NM_018896.5(CACNA1G):c.2911G>T (p.Glu971Ter) rs2045220988
NM_018896.5(CACNA1G):c.4325A>G (p.Gln1442Arg) rs2047867072
NM_018896.5(CACNA1G):c.5230G>A (p.Gly1744Arg) rs2050959815
NM_018896.5(CACNA1G):c.6944C>T (p.Pro2315Leu) rs1192468690
NM_018896.5(CACNA1G):c.7088T>C (p.Leu2363Pro) rs2053882218
NM_022726.4(ELOVL4):c.163C>G (p.Leu55Val) rs1774342487
NM_024411.5(PDYN):c.658_659del (p.Trp220fs) rs748307861
NM_152296.5(ATP1A3):c.1402G>T (p.Ala468Ser) rs2075231562
NM_173500.4(TTBK2):c.2720A>G (p.Glu907Gly) rs1476451255
NM_198994.3(TGM6):c.64A>G (p.Thr22Ala) rs773079291

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