List of variants in gene ITPR1 reported as pathogenic for cerebellar disorder

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001378452.1(ITPR1):c.106C>T (p.Arg36Cys)	rs2124927471
NM_001378452.1(ITPR1):c.1702A>G (p.Arg568Gly)	rs1322796318
NM_001378452.1(ITPR1):c.1804A>G (p.Asn602Asp)	rs397514536
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.5504T>C (p.Leu1835Pro)	rs1114167316
NM_001378452.1(ITPR1):c.722G>A (p.Arg241Lys)	rs2125159664
NM_001378452.1(ITPR1):c.7352T>C (p.Leu2451Pro)	rs1553756062
NM_001378452.1(ITPR1):c.736G>A (p.Glu246Lys)	rs1553666546
NM_001378452.1(ITPR1):c.800C>G (p.Thr267Arg)	rs797044955
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met)	rs797044955
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)	rs886039392

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