ClinVar Miner

List of variants in gene ITPR1 reported as pathogenic by Schule lab,Hertie Institute for Clinical Brain Research

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Total variants: 6
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HGVS dbSNP
NM_001168272.1(ITPR1):c.1657A>G (p.Arg553Gly) rs1322796318
NM_001168272.1(ITPR1):c.7307T>C (p.Leu2436Pro) rs1553756062
NM_001168272.1(ITPR1):c.736G>A (p.Glu246Lys) rs1553666546
NM_001168272.1(ITPR1):c.7783_7785AAG[1] (p.Lys2596del) rs878853175
NM_001168272.1(ITPR1):c.800C>T (p.Thr267Met) rs797044955
NM_001168272.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392

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