ClinVar Miner

List of variants reported as uncertain significance for autosomal dominant cerebellar ataxia by Mendelics

Included ClinVar conditions (77):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001372574.1(ATXN2):c.-266C>T rs536609944 0.00138
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser) rs267606941 0.00008
NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp) rs387907097 0.00006
NM_001378452.1(ITPR1):c.6206A>G (p.Asn2069Ser) rs1360324926
NM_004977.3(KCNC3):c.1583T>G (p.Val528Gly) rs1601098237
NM_024411.5(PDYN):c.217A>G (p.Thr73Ala) rs786205212
NM_024411.5(PDYN):c.658_659del (p.Trp220fs) rs748307861

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