ClinVar Miner

List of variants in gene ITPR1 studied for Gillespie syndrome

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Total variants: 13
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HGVS dbSNP
NM_001168272.1(ITPR1):c.1207-2A>T rs1559638068
NM_001168272.1(ITPR1):c.2137C>T (p.Arg713Ter) rs878853172
NM_001168272.1(ITPR1):c.278_279+2delACGT rs1553654413
NM_001168272.1(ITPR1):c.2934_2935insTATA (p.Val979fs) rs1553689752
NM_001168272.1(ITPR1):c.4654C>T (p.Gln1552Ter) rs878853171
NM_001168272.1(ITPR1):c.6281A>G (p.Glu2094Gly) rs878853177
NM_001168272.1(ITPR1):c.6465+3A>T rs878853173
NM_001168272.1(ITPR1):c.6763+5G>T rs878853174
NM_001168272.1(ITPR1):c.7615G>A (p.Gly2539Arg) rs752281590
NM_001168272.1(ITPR1):c.7615G>C (p.Gly2539Arg) rs752281590
NM_001168272.1(ITPR1):c.7748T>A (p.Ile2583Asn) rs1553758021
NM_001168272.1(ITPR1):c.7758T>G (p.Phe2586Leu) rs878853176
NM_001168272.1(ITPR1):c.7783_7785AAG[1] (p.Lys2596del) rs878853175

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