ClinVar Miner

List of variants in gene ITPR1 reported as uncertain significance for not specified

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001378452.1(ITPR1):c.3664G>A (p.Ala1222Thr) rs372881053 0.00006
NM_001378452.1(ITPR1):c.7528G>A (p.Gly2510Arg) rs868822649 0.00004
NM_001378452.1(ITPR1):c.7272+15T>A rs777868994 0.00003
NM_001378452.1(ITPR1):c.2780-8T>C rs558804336 0.00001
NM_001378452.1(ITPR1):c.3830T>A (p.Ile1277Asn) rs773030719 0.00001
NM_001378452.1(ITPR1):c.3916G>A (p.Val1306Ile) rs187604016 0.00001
NM_001378452.1(ITPR1):c.188T>C (p.Met63Thr) rs370953766
NM_001378452.1(ITPR1):c.1906G>A (p.Asp636Asn) rs2094030403
NM_001378452.1(ITPR1):c.1928A>G (p.Lys643Arg) rs2094030944
NM_001378452.1(ITPR1):c.2174A>C (p.Lys725Thr) rs797045632
NM_001378452.1(ITPR1):c.361A>T (p.Ile121Phe) rs532037891
NM_001378452.1(ITPR1):c.4083C>A (p.Phe1361Leu) rs763239856
NM_001378452.1(ITPR1):c.5673A>G (p.Gly1891=) rs1553735513
NM_001378452.1(ITPR1):c.5980-6T>C
NM_001378452.1(ITPR1):c.6155G>C (p.Cys2052Ser) rs1553740488
NM_001378452.1(ITPR1):c.6337G>A (p.Asp2113Asn)
NM_001378452.1(ITPR1):c.8145A>C (p.Lys2715Asn)
NM_001378452.1(ITPR1):c.829A>G (p.Ser277Gly) rs1559603629

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