List of variants in gene ITPR1 reported as pathogenic for Gillespie syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001378452.1(ITPR1):c.106C>T (p.Arg36Cys)	rs2124927471
NM_001378452.1(ITPR1):c.1252-2A>T	rs1559638068
NM_001378452.1(ITPR1):c.2182C>T (p.Arg728Ter)	rs878853172
NM_001378452.1(ITPR1):c.279+4_279+7del	rs1553654413
NM_001378452.1(ITPR1):c.2979_2980insTATA (p.Val994fs)	rs1553689752
NM_001378452.1(ITPR1):c.4699C>T (p.Gln1567Ter)	rs878853171
NM_001378452.1(ITPR1):c.6326A>G (p.Glu2109Gly)	rs878853177
NM_001378452.1(ITPR1):c.6510+3A>T	rs878853173
NM_001378452.1(ITPR1):c.6808+5G>T	rs878853174
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)	rs886039392

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