List of variants in gene ITPR1 reported by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001378452.1(ITPR1):c.2226G>A (p.Ala742=)	rs41289636	0.00470
NM_001378452.1(ITPR1):c.3894C>T (p.Asn1298=)	rs182840163	0.00248
NM_001378452.1(ITPR1):c.5265C>T (p.Asn1755=)	rs61757111	0.00215
NM_001378452.1(ITPR1):c.5621T>G (p.Val1874Gly)	rs143093165	0.00213
NM_001378452.1(ITPR1):c.1886+7C>T	rs181465598	0.00207
NM_001378452.1(ITPR1):c.2007-3T>C	rs200335594	0.00148
NM_001378452.1(ITPR1):c.3207C>T (p.Thr1069=)	rs186541002	0.00143
NM_001378452.1(ITPR1):c.4837T>C (p.Leu1613=)	rs367643585	0.00120
NM_001378452.1(ITPR1):c.7959C>T (p.Ile2653=)	rs371988852	0.00035
NM_001378452.1(ITPR1):c.3921C>T (p.His1307=)	rs61757108	0.00029
NM_001378452.1(ITPR1):c.4407+7C>T	rs886042210	0.00003
NM_001378452.1(ITPR1):c.4526C>G (p.Thr1509Arg)	rs370021605
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)	rs886039392

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