ClinVar Miner

List of variants in gene ITPR1 reported as likely pathogenic for not provided

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Total variants: 10
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HGVS dbSNP
NM_001168272.1(ITPR1):c.3867C>G (p.His1289Gln) rs556943368
NM_001168272.1(ITPR1):c.800C>G (p.Thr267Arg)
NM_001168272.1:c.742_744del
NM_002222.5(ITPR1):c.107G>A (p.Arg36His) rs1057518026
NM_002222.5(ITPR1):c.1655A>C (p.Tyr552Ser) rs1131691919
NM_002222.5(ITPR1):c.1768C>T (p.Leu590Phe) rs1064796252
NM_002222.5(ITPR1):c.1864C>A (p.Leu622Ile) rs1553683825
NM_002222.5(ITPR1):c.731A>G (p.His244Arg) rs1085308010
NM_002222.5(ITPR1):c.7586T>C (p.Leu2529Pro) rs1131691473
NM_002222.5(ITPR1):c.805C>T (p.Arg269Trp) rs886039392

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