ClinVar Miner

List of variants in gene ITPR1 reported as uncertain significance for not provided

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Total variants: 26
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HGVS dbSNP
NM_001168272.1(ITPR1):c.1435G>A (p.Val479Ile) rs41289628
NM_001168272.1(ITPR1):c.1787C>A (p.Thr596Asn) rs1553682680
NM_001168272.1(ITPR1):c.182G>C (p.Cys61Ser) rs1559566851
NM_001168272.1(ITPR1):c.1962-3T>C rs200335594
NM_001168272.1(ITPR1):c.2066G>A (p.Ser689Asn)
NM_001168272.1(ITPR1):c.2638A>G (p.Ile880Val)
NM_001168272.1(ITPR1):c.2728C>G (p.Leu910Val) rs761743436
NM_001168272.1(ITPR1):c.2T>C (p.Met1Thr)
NM_001168272.1(ITPR1):c.3412A>G (p.Met1138Val) rs199698357
NM_001168272.1(ITPR1):c.366+6T>A rs1559591437
NM_001168272.1(ITPR1):c.3876C>T (p.His1292=) rs61757108
NM_001168272.1(ITPR1):c.4006G>A (p.Val1336Ile) rs1553697090
NM_001168272.1(ITPR1):c.4362+7C>T rs886042210
NM_001168272.1(ITPR1):c.4379G>T (p.Ser1460Ile) rs1206311675
NM_001168272.1(ITPR1):c.4481C>G (p.Thr1494Arg) rs370021605
NM_001168272.1(ITPR1):c.4588T>A (p.Cys1530Ser) rs1559731146
NM_001168272.1(ITPR1):c.4595G>A (p.Arg1532Gln) rs1250105592
NM_001168272.1(ITPR1):c.5220C>T (p.Asn1740=) rs61757111
NM_001168272.1(ITPR1):c.5256C>A (p.Ser1752Arg)
NM_001168272.1(ITPR1):c.5744C>A (p.Ala1915Asp)
NM_001168272.1(ITPR1):c.5822C>T (p.Ala1941Val)
NM_001168272.1(ITPR1):c.6763+4G>A
NM_001168272.1(ITPR1):c.6997A>G (p.Thr2333Ala)
NM_001168272.1(ITPR1):c.736G>A (p.Glu246Lys) rs1553666546
NM_001168272.1(ITPR1):c.7585G>A (p.Val2529Ile)
NM_001168272.1(ITPR1):c.7914C>T (p.Ile2638=) rs371988852

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