ClinVar Miner

List of variants studied for cerebellar disorder by Breda Genetics srl

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter) rs1355690902
NM_001134831.2(AHI1):c.910dup (p.Thr304fs) rs753874898
NM_020247.5(COQ8A):c.1054G>T (p.Gly352Cys) rs536852535
NM_153816.6(SNX14):c.295C>T (p.His99Tyr) rs1795901647
NM_182961.4(SYNE1):c.16880T>C (p.Leu5627Pro) rs2153836967

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