ClinVar Miner

List of variants in gene ITPR1 reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 5
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HGVS dbSNP
NM_001168272.1(ITPR1):c.2728C>G (p.Leu910Val) rs761743436
NM_001168272.1(ITPR1):c.4379G>T (p.Ser1460Ile) rs1206311675
NM_002222.5(ITPR1):c.1435G>A (p.Val479Ile) rs41289628
NM_002222.5(ITPR1):c.1962-3T>C rs200335594
NM_002222.5(ITPR1):c.3385A>G (p.Met1129Val) rs199698357

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