List of variants in gene ITPR1 reported as uncertain significance for Gillespie syndrome

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_001378452.1(ITPR1):c.2111G>C (p.Ser704Thr)	rs373694009	0.00019
NM_001378452.1(ITPR1):c.5270G>C (p.Arg1757Thr)	rs949938763	0.00003
NM_001378452.1(ITPR1):c.5875G>A (p.Asp1959Asn)	rs773864227	0.00003
NM_001378452.1(ITPR1):c.3830T>A (p.Ile1277Asn)	rs773030719	0.00001
NM_001378452.1(ITPR1):c.4438G>A (p.Ala1480Thr)	rs1392354334	0.00001
NM_001378452.1(ITPR1):c.1600C>A (p.Pro534Thr)	rs2093919890
NM_001378452.1(ITPR1):c.1639G>A (p.Ala547Thr)	rs746128987
NM_001378452.1(ITPR1):c.226G>A (p.Ala76Thr)
NM_001378452.1(ITPR1):c.2354T>A (p.Leu785His)	rs2125214071
NM_001378452.1(ITPR1):c.2473G>A (p.Ala825Thr)	rs2094142451
NM_001378452.1(ITPR1):c.4249C>T (p.Arg1417Cys)	rs1168676216
NM_001378452.1(ITPR1):c.4403G>T (p.Cys1468Phe)
NM_001378452.1(ITPR1):c.443G>A (p.Arg148Lys)	rs2093352735
NM_001378452.1(ITPR1):c.6401A>G (p.Lys2134Arg)
NM_001378452.1(ITPR1):c.692A>T (p.Asp231Val)
NM_001378452.1(ITPR1):c.833C>T (p.Ser278Leu)
NM_001378452.1(ITPR1):c.951+6_951+8del	rs2093612036

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