ClinVar Miner

List of variants reported as uncertain significance for cerebellar disorder by Institute of Human Genetics, University of Goettingen

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_015378.4(VPS13D):c.4022C>T (p.Ser1341Leu) rs12407578 0.00280
NM_198994.3(TGM6):c.1382T>C (p.Leu461Pro) rs984559925 0.00004
NM_006946.4(SPTBN2):c.3867+3G>T rs753473374 0.00001
NM_015378.4(VPS13D):c.2065C>T (p.Arg689Trp) rs775767366 0.00001
NM_001020658.2(PUM1):c.2559A>G (p.Ile853Met) rs1640041056
NM_001378452.1(ITPR1):c.4868G>A (p.Arg1623His) rs561526280
NM_018896.5(CACNA1G):c.1501C>T (p.His501Tyr) rs750741896
NM_021814.5(ELOVL5):c.235A>T (p.Met79Leu) rs1766783949

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