ClinVar Miner

List of variants studied for autosomal dominant cerebellar ataxia by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (77):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001378452.1(ITPR1):c.3251C>T (p.Pro1084Leu) rs1467772045 0.00002
NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp) rs1557539450
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met) rs764839814
NM_001378452.1(ITPR1):c.2806G>A (p.Gly936Ser) rs1559671950
NM_001378452.1(ITPR1):c.7784G>A (p.Gly2595Glu) rs869312685
NM_015215.4(CAMTA1):c.3356C>T (p.Ala1119Val) rs1577305812

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