List of variants in gene ITPR1 reported as pathogenic by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001378452.1(ITPR1):c.106C>T (p.Arg36Cys)	rs2124927471
NM_001378452.1(ITPR1):c.1804A>G (p.Asn602Asp)	rs397514536
NM_001378452.1(ITPR1):c.2182C>T (p.Arg728Ter)	rs878853172
NM_001378452.1(ITPR1):c.3248C>T (p.Pro1083Leu)	rs121912425
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met)	rs397514535
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

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