ClinVar Miner

List of variants reported as likely pathogenic for cerebellar degeneration by Solve-RD Consortium

Included ClinVar conditions (265):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile) rs199874519 0.00016
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys) rs119468004 0.00002
NM_182961.4(SYNE1):c.9208C>T (p.Arg3070Ter) rs549779256 0.00002
NM_182961.4(SYNE1):c.24814C>T (p.Arg8272Ter) rs761433022 0.00001
GRCh37/hg19 11q13.2(chr11:66472691-66475714)x1
GRCh37/hg19 3p26.1(chr3:4669445-4859925)x1
NM_000051.4(ATM):c.3284+3A>G rs1591610398
NM_000370.3(TTPA):c.594del (p.Asn198fs)
NM_000784.4(CYP27A1):c.433G>A (p.Gly145Arg) rs587778795
NM_001080414.4(CCDC88C):c.1702C>T (p.Arg568Ter)
NM_001114748.2(TMEM240):c.196G>A (p.Gly66Arg) rs1057518011
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met) rs397514535
NM_001378452.1(ITPR1):c.773A>T (p.Lys258Met)
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378969.1(KCND3):c.1130C>T (p.Thr377Met) rs1571636501
NM_002739.5(PRKCG):c.187G>C (p.Gly63Arg)
NM_002739.5(PRKCG):c.302A>G (p.His101Arg) rs2068656783
NM_002739.5(PRKCG):c.323A>G (p.Tyr108Cys) rs2122988484
NM_002739.5(PRKCG):c.457G>C (p.Asp153His)
NM_005861.4(STUB1):c.194A>G (p.Asn65Ser) rs690016544
NM_005861.4(STUB1):c.367C>G (p.Leu123Val) rs587777344
NM_006796.3(AFG3L2):c.2012G>A (p.Gly671Glu) rs151344518
NM_006796.3(AFG3L2):c.2067_2068del (p.Tyr689_Ser690delinsTer) rs765987297
NM_014363.6(SACS):c.2881C>T (p.Arg961Ter) rs1593133395
NM_014363.6(SACS):c.4756_4760del (p.Asn1586fs) rs765361868
NM_014363.6(SACS):c.815G>A (p.Arg272His) rs745907077
NM_017686.4(GDAP2):c.134del (p.Pro45fs)
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018294.6(CWF19L1):c.1552G>A (p.Glu518Lys)
NM_018294.6(CWF19L1):c.942del (p.Pro315fs) rs749679347
NM_018896.5(CACNA1G):c.4591A>T (p.Met1531Leu)
NM_018896.5(CACNA1G):c.6394C>T (p.Arg2132Cys)
NM_020247.5(COQ8A):c.1003C>T (p.Pro335Ser) rs1487879565
NM_020247.5(COQ8A):c.620C>T (p.Pro207Leu)
NM_020247.5(COQ8A):c.802T>C (p.Cys268Arg)
NM_022464.5(SIL1):c.947dup (p.Arg317fs)
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) rs797044995
NM_152703.5(SAMD9L):c.3353A>G (p.Tyr1118Cys) rs1562789302
NM_153816.6(SNX14):c.1894+1G>T rs876657386
NM_182961.4(SYNE1):c.10295_10299del (p.Ala3432fs)
NM_182961.4(SYNE1):c.13567_13570del (p.Glu4523fs)
NM_182961.4(SYNE1):c.22045-2A>G
NM_182961.4(SYNE1):c.23146-2A>G
NM_182961.4(SYNE1):c.4534C>T (p.Gln1512Ter) rs988770583
NM_198994.3(TGM6):c.110C>A (p.Ser37Ter)

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