List of variants in gene ITPR1 reported as uncertain significance for Spinocerebellar ataxia type 15/16

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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: 16

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HGVS	dbSNP	gnomAD frequency
NM_001378452.1(ITPR1):c.4421C>T (p.Thr1474Ile)	rs188558398	0.00048
NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr)	rs767787371	0.00005
NM_001378452.1(ITPR1):c.3766G>A (p.Ala1256Thr)	rs768179678	0.00004
NM_001378452.1(ITPR1):c.3251C>T (p.Pro1084Leu)	rs1467772045	0.00002
NM_001378452.1(ITPR1):c.4541G>A (p.Arg1514His)	rs749048534	0.00002
NM_001378452.1(ITPR1):c.3026G>A (p.Arg1009Gln)	rs1574832115	0.00001
NM_001378452.1(ITPR1):c.3206C>T (p.Thr1069Ile)	rs747698039	0.00001
NM_001378452.1(ITPR1):c.1216A>G (p.Ile406Val)
NM_001378452.1(ITPR1):c.2540A>T (p.Asp847Val)
NM_001378452.1(ITPR1):c.2705C>T (p.Thr902Ile)
NM_001378452.1(ITPR1):c.2851T>C (p.Phe951Leu)
NM_001378452.1(ITPR1):c.4754A>G (p.Asn1585Ser)
NM_001378452.1(ITPR1):c.5327G>T (p.Gly1776Val)
NM_001378452.1(ITPR1):c.5354G>C (p.Gly1785Ala)	rs200004069
NM_001378452.1(ITPR1):c.6720G>C (p.Glu2240Asp)
NM_001378452.1(ITPR1):c.6848T>G (p.Phe2283Cys)

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