ClinVar Miner

List of variants studied for cerebellar degeneration by University of Washington Department of Laboratory Medicine, University of Washington

Included ClinVar conditions (265):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000051.4(ATM):c.2960G>A (p.Cys987Tyr) rs1555085052

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