ClinVar Miner

List of variants studied for cerebellar ataxia by Ocular Genomics Institute, Massachusetts Eye and Ear

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001378615.1(CC2D2A):c.1340C>T (p.Ala447Val) rs775138548 0.00004
NM_014053.4(FLVCR1):c.2T>C (p.Met1Thr) rs1468358104 0.00004
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg) rs267606821 0.00003
NM_001378615.1(CC2D2A):c.3195del (p.Gln1065fs) rs2109070129

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