ClinVar Miner

List of variants reported as pathogenic for cerebellar disorder by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (275):
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ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs) rs397515379 0.00010
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00009
NM_007289.4(MME):c.1342C>T (p.Arg448Ter) rs149905705 0.00008
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409 0.00007
NM_000271.5(NPC1):c.1421C>T (p.Pro474Leu) rs372445155 0.00002
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750 0.00002
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter) rs780225183 0.00001
NM_025114.4(CEP290):c.6012-2A>G rs555755221 0.00001
NC_000004.12:g.39348425AAGGG[(400_2000)]
NM_000051.4(ATM):c.689del (p.Asn230fs) rs1057518965
NM_000551.4(VHL):c.194C>T (p.Ser65Leu) rs5030826
NM_001378615.1(CC2D2A):c.1149+1G>A rs1553827236
NM_001378615.1(CC2D2A):c.4179+1del rs386833760
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs) rs587777139
NM_003172.4(SURF1):c.845_846del (p.Ser282fs) rs782316919
NM_006516.4(SLC2A1):c.470dup (p.Thr158fs) rs1057518821
NM_007289.4(MME):c.467del (p.Pro156fs) rs749320057
NM_007289.4(MME):c.594dup (p.Val199fs) rs1254522989
NM_025114.4(CEP290):c.1514_1515del (p.Glu505fs) rs886043303
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter) rs1057518822
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter) rs62640581
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs) rs780624853
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.7027del (p.Val2343fs) rs2033827549
NM_182961.4(SYNE1):c.13948C>T (p.Arg4650Ter) rs866163858

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