ClinVar Miner

List of variants reported as likely pathogenic for cerebellar ataxia by Genomics England Pilot Project, Genomics England

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn) rs372359781 0.00011
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter) rs750732115 0.00002
NM_182961.4(SYNE1):c.12528+1G>A rs1012514808 0.00001
NM_182961.4(SYNE1):c.26098C>T (p.Arg8700Ter) rs1193193335 0.00001
NM_001114748.2(TMEM240):c.196G>A (p.Gly66Arg) rs1057518011
NM_001127222.2(CACNA1A):c.2524_2551del (p.Glu842fs) rs2144956632
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln) rs1555745467
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn) rs1064795531
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127222.2(CACNA1A):c.519C>A (p.Asp173Glu) rs2144936093
NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg) rs1553757628
NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg) rs752281590
NM_002739.5(PRKCG):c.323A>G (p.Tyr108Cys) rs2122988484
NM_002739.5(PRKCG):c.381G>T (p.Gln127His) rs973767996
NM_002739.5(PRKCG):c.394T>C (p.Ser132Pro) rs2122988688
NM_005861.4(STUB1):c.779A>C (p.His260Pro) rs2151506687
NM_014363.6(SACS):c.12011_12019del (p.Leu4004_Leu4006del) rs2137561854
NM_015046.7(SETX):c.2332C>T (p.Arg778Ter) rs747501465
NM_015046.7(SETX):c.6106G>C (p.Gly2036Arg) rs863224919

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