ClinVar Miner

List of variants in gene PDYN reported as benign for autosomal dominant cerebellar ataxia

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_024411.4(PDYN):c.-381A>G rs1997794 0.49716
NM_024411.5(PDYN):c.*1030C>T rs2235749 0.36165
NM_024411.5(PDYN):c.*743T>C rs910080 0.35005
NM_024411.5(PDYN):c.600T>C (p.His200=) rs6045819 0.16142
NM_024411.5(PDYN):c.*656T>C rs10485703 0.12279
NM_024411.5(PDYN):c.*369A>G rs73894108 0.02261
NM_024411.5(PDYN):c.*556C>T rs73571349 0.02074
NM_024411.5(PDYN):c.*138A>G rs111525766 0.01924
NM_024411.5(PDYN):c.*1396C>T rs6106013 0.01038
NM_024411.5(PDYN):c.*1029A>G rs115095625 0.00982
NM_024411.5(PDYN):c.*356T>C rs114429882 0.00768
NM_024411.5(PDYN):c.575A>T (p.Glu192Val) rs45469293 0.00742
NM_024411.5(PDYN):c.436A>C (p.Met146Leu) rs77155664 0.00698
NM_024411.5(PDYN):c.*1443G>A rs148395893 0.00643
NM_024411.5(PDYN):c.*836C>G rs80315813 0.00016
NM_024411.5(PDYN):c.*78A>G rs537887207 0.00009
NM_024411.5(PDYN):c.*1457C>G rs529380614 0.00006
NM_024411.5(PDYN):c.*225T>C rs569014510 0.00006
NM_024411.5(PDYN):c.*1394C>A rs112661575
NM_024411.5(PDYN):c.*771T>C rs910079

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