ClinVar Miner

List of variants in gene ITPR1 studied for Spinocerebellar ataxia 29

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Total variants: 18
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HGVS dbSNP
NM_001168272.1(ITPR1):c.1561C>T (p.Leu521Phe) rs1553681680
NM_001168272.1(ITPR1):c.1657A>G (p.Arg553Gly) rs1322796318
NM_001168272.1(ITPR1):c.1759A>G (p.Asn587Asp) rs397514536
NM_001168272.1(ITPR1):c.2687C>T (p.Ala896Val) rs201519806
NM_001168272.1(ITPR1):c.2761G>A (p.Gly921Ser) rs1559671950
NM_001168272.1(ITPR1):c.3412A>G (p.Met1138Val) rs199698357
NM_001168272.1(ITPR1):c.3416A>G (p.Asp1139Gly) rs61751570
NM_001168272.1(ITPR1):c.4390C>T (p.His1464Tyr) rs943946433
NM_001168272.1(ITPR1):c.4639G>A (p.Val1547Met) rs397514535
NM_001168272.1(ITPR1):c.4980A>C (p.Glu1660Asp) rs1553706329
NM_001168272.1(ITPR1):c.5459T>C (p.Leu1820Pro) rs1114167316
NM_001168272.1(ITPR1):c.6304G>T (p.Ala2102Ser) rs373973399
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.7739G>C (p.Gly2580Ala) rs869312685
NM_001168272.1(ITPR1):c.800C>T (p.Thr267Met) rs797044955
NM_001168272.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001168272.1(ITPR1):c.830G>T (p.Ser277Ile) rs863224882

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