ClinVar Miner

List of variants in gene ITPR1 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 13
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HGVS dbSNP
NM_001168272.1(ITPR1):c.1841+7C>T rs181465598
NM_001168272.1(ITPR1):c.1962-3T>C rs200335594
NM_001168272.1(ITPR1):c.2181G>A (p.Ala727=) rs41289636
NM_001168272.1(ITPR1):c.3162C>T (p.Thr1054=) rs186541002
NM_001168272.1(ITPR1):c.3849C>T (p.Asn1283=) rs182840163
NM_001168272.1(ITPR1):c.3876C>T (p.His1292=) rs61757108
NM_001168272.1(ITPR1):c.4362+7C>T rs886042210
NM_001168272.1(ITPR1):c.4481C>G (p.Thr1494Arg) rs370021605
NM_001168272.1(ITPR1):c.4792T>C (p.Leu1598=) rs367643585
NM_001168272.1(ITPR1):c.5220C>T (p.Asn1740=) rs61757111
NM_001168272.1(ITPR1):c.5576T>G (p.Val1859Gly) rs143093165
NM_001168272.1(ITPR1):c.7914C>T (p.Ile2638=) rs371988852
NM_001168272.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392

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