ClinVar Miner

List of variants in gene ITPR1 studied for not provided

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Total variants: 51
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HGVS dbSNP
GRCh37/hg19 3p26.1(chr3:4513497-4612609)x1
NM_001168272.1(ITPR1):c.107G>A (p.Arg36His) rs1057518026
NM_001168272.1(ITPR1):c.1207-1G>C rs1064796337
NM_001168272.1(ITPR1):c.141C>T (p.Asn47=)
NM_001168272.1(ITPR1):c.1435G>A (p.Val479Ile) rs41289628
NM_001168272.1(ITPR1):c.1655A>C (p.Tyr552Ser) rs1131691919
NM_001168272.1(ITPR1):c.1674T>C (p.Tyr558=)
NM_001168272.1(ITPR1):c.1768C>T (p.Leu590Phe) rs1064796252
NM_001168272.1(ITPR1):c.1787C>A (p.Thr596Asn) rs1553682680
NM_001168272.1(ITPR1):c.182G>C (p.Cys61Ser) rs1559566851
NM_001168272.1(ITPR1):c.1841+7C>T rs181465598
NM_001168272.1(ITPR1):c.1864C>A (p.Leu622Ile) rs1553683825
NM_001168272.1(ITPR1):c.1962-3T>C rs200335594
NM_001168272.1(ITPR1):c.2062G>A (p.Asp688Asn)
NM_001168272.1(ITPR1):c.2066G>A (p.Ser689Asn)
NM_001168272.1(ITPR1):c.2235G>T (p.Leu745=) rs375801584
NM_001168272.1(ITPR1):c.2638A>G (p.Ile880Val)
NM_001168272.1(ITPR1):c.2682G>A (p.Lys894=)
NM_001168272.1(ITPR1):c.2728C>G (p.Leu910Val) rs761743436
NM_001168272.1(ITPR1):c.2T>C (p.Met1Thr)
NM_001168272.1(ITPR1):c.3412A>G (p.Met1138Val) rs199698357
NM_001168272.1(ITPR1):c.366+6T>A rs1559591437
NM_001168272.1(ITPR1):c.3867C>G (p.His1289Gln) rs556943368
NM_001168272.1(ITPR1):c.3876C>T (p.His1292=) rs61757108
NM_001168272.1(ITPR1):c.4006G>A (p.Val1336Ile) rs1553697090
NM_001168272.1(ITPR1):c.4218C>G (p.His1406Gln) rs61757110
NM_001168272.1(ITPR1):c.4362+7C>T rs886042210
NM_001168272.1(ITPR1):c.4379G>T (p.Ser1460Ile) rs1206311675
NM_001168272.1(ITPR1):c.4428C>T (p.Ile1476=)
NM_001168272.1(ITPR1):c.4481C>G (p.Thr1494Arg) rs370021605
NM_001168272.1(ITPR1):c.4588T>A (p.Cys1530Ser) rs1559731146
NM_001168272.1(ITPR1):c.4595G>A (p.Arg1532Gln) rs1250105592
NM_001168272.1(ITPR1):c.508C>T (p.Arg170Ter) rs886058579
NM_001168272.1(ITPR1):c.5220C>T (p.Asn1740=) rs61757111
NM_001168272.1(ITPR1):c.5256C>A (p.Ser1752Arg)
NM_001168272.1(ITPR1):c.5576T>G (p.Val1859Gly) rs143093165
NM_001168272.1(ITPR1):c.5744C>A (p.Ala1915Asp)
NM_001168272.1(ITPR1):c.5822C>T (p.Ala1941Val)
NM_001168272.1(ITPR1):c.6763+4G>A
NM_001168272.1(ITPR1):c.6997A>G (p.Thr2333Ala)
NM_001168272.1(ITPR1):c.731A>G (p.His244Arg) rs1085308010
NM_001168272.1(ITPR1):c.736G>A (p.Glu246Lys) rs1553666546
NM_001168272.1(ITPR1):c.742_744del (p.Glu248del) rs1559603328
NM_001168272.1(ITPR1):c.7585G>A (p.Val2529Ile)
NM_001168272.1(ITPR1):c.7614C>T (p.Ser2538=) rs200562410
NM_001168272.1(ITPR1):c.7656+3A>G
NM_001168272.1(ITPR1):c.7730T>C (p.Leu2577Pro) rs1131691473
NM_001168272.1(ITPR1):c.7914C>T (p.Ile2638=) rs371988852
NM_001168272.1(ITPR1):c.800C>G (p.Thr267Arg)
NM_001168272.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001168272.1(ITPR1):c.989G>A (p.Arg330Gln)

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