ClinVar Miner

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

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Total variants: 24
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 3p26.1(chr3:4513497-4612609)x1
NC_000003.11:g.(?_4558176)_(4562798_?)del
NC_000003.11:g.(?_4669427)_(4715091_?)del
NM_001378452.1(ITPR1):c.106C>T (p.Arg36Cys) rs2124927471
NM_001378452.1(ITPR1):c.1252-1G>A
NM_001378452.1(ITPR1):c.1252-1G>C rs1064796337
NM_001378452.1(ITPR1):c.1252-1G>T rs1064796337
NM_001378452.1(ITPR1):c.1700A>G (p.Tyr567Cys)
NM_001378452.1(ITPR1):c.1705A>G (p.Lys569Glu) rs2125196920
NM_001378452.1(ITPR1):c.1781C>T (p.Thr594Ile) rs2125201841
NM_001378452.1(ITPR1):c.1867C>T (p.Arg623Ter)
NM_001378452.1(ITPR1):c.2377C>T (p.Arg793Ter) rs2125214086
NM_001378452.1(ITPR1):c.3261_3262del (p.Ala1089fs)
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met) rs397514535
NM_001378452.1(ITPR1):c.5056C>T (p.Gln1686Ter)
NM_001378452.1(ITPR1):c.5063T>C (p.Leu1688Pro) rs2125283083
NM_001378452.1(ITPR1):c.508C>T (p.Arg170Ter) rs886058579
NM_001378452.1(ITPR1):c.7073T>G (p.Leu2358Ter)
NM_001378452.1(ITPR1):c.7322G>A (p.Ser2441Asn)
NM_001378452.1(ITPR1):c.748T>C (p.Phe250Leu) rs2125159710
NM_001378452.1(ITPR1):c.7899del (p.Val2634fs)
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met) rs797044955
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378452.1(ITPR1):c.806G>T (p.Arg269Leu) rs760588490

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