ClinVar Miner

List of variants in gene ITPR1 reported as pathogenic for Inborn genetic diseases

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Total variants: 4
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HGVS dbSNP
NM_002222.6(ITPR1):c.736G>A (p.Glu246Lys) rs1553666546
NM_002222.6(ITPR1):c.7471G>A (p.Gly2491Arg) rs752281590
NM_002222.6(ITPR1):c.800C>T (p.Thr267Met) rs797044955
NM_002222.6(ITPR1):c.805C>T (p.Arg269Trp) rs886039392

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