ClinVar Miner

List of variants in gene ITPR1 reported as likely pathogenic

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Total variants: 15
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HGVS dbSNP
NM_001168272.1(ITPR1):c.107G>A (p.Arg36His) rs1057518026
NM_001168272.1(ITPR1):c.1655A>C (p.Tyr552Ser) rs1131691919
NM_001168272.1(ITPR1):c.1768C>T (p.Leu590Phe) rs1064796252
NM_001168272.1(ITPR1):c.1864C>A (p.Leu622Ile) rs1553683825
NM_001168272.1(ITPR1):c.3849C>T (p.Asn1283=) rs182840163
NM_001168272.1(ITPR1):c.3867C>G (p.His1289Gln) rs556943368
NM_001168272.1(ITPR1):c.4639G>A (p.Val1547Met) rs397514535
NM_001168272.1(ITPR1):c.731A>G (p.His244Arg) rs1085308010
NM_001168272.1(ITPR1):c.742_744del (p.Glu248del) rs1559603328
NM_001168272.1(ITPR1):c.7615G>A (p.Gly2539Arg) rs752281590
NM_001168272.1(ITPR1):c.7730T>C (p.Leu2577Pro) rs1131691473
NM_001168272.1(ITPR1):c.7739G>C (p.Gly2580Ala) rs869312685
NM_001168272.1(ITPR1):c.800C>G (p.Thr267Arg)
NM_001168272.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001168272.1(ITPR1):c.830G>T (p.Ser277Ile) rs863224882

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