ClinVar Miner

List of variants in gene ITPR1 reported as pathogenic by OMIM

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Total variants: 13
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NM_002222.6(ITPR1):c.1759A>G (p.Asn587Asp) rs397514536
NM_002222.6(ITPR1):c.2137C>T (p.Arg713Ter) rs878853172
NM_002222.6(ITPR1):c.3176C>T (p.Pro1059Leu) rs121912425
NM_002222.6(ITPR1):c.4612G>A (p.Val1538Met) rs397514535
NM_002222.6(ITPR1):c.4627C>T (p.Gln1543Ter) rs878853171
NM_002222.6(ITPR1):c.6137A>G (p.Glu2046Gly) rs878853177
NM_002222.6(ITPR1):c.6321+3A>T rs878853173
NM_002222.6(ITPR1):c.6619+5G>T rs878853174
NM_002222.6(ITPR1):c.7471G>A (p.Gly2491Arg) rs752281590
NM_002222.6(ITPR1):c.7471G>C (p.Gly2491Arg) rs752281590
NM_002222.6(ITPR1):c.7604T>A (p.Ile2535Asn) rs1553758021
NM_002222.6(ITPR1):c.7614T>G (p.Phe2538Leu) rs878853176
NM_002222.6(ITPR1):c.7639_7641AAG[1] (p.Lys2548del) rs878853175

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