ClinVar Miner

List of variants in gene ITPR1 reported as uncertain significance by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001378452.1(ITPR1):c.3251C>T (p.Pro1084Leu) rs1467772045 0.00002
NM_001378452.1(ITPR1):c.2354T>A (p.Leu785His) rs2125214071
NM_001378452.1(ITPR1):c.2806G>A (p.Gly936Ser) rs1559671950

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