List of variants reported as benign for Imerslund-Grasbeck syndrome by Genome-Nilou Lab

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_001081.4(CUBN):c.8150C>G (p.Ser2717Trp)	rs2796835	0.99996
NM_001081.4(CUBN):c.6485G>A (p.Cys2162Tyr)	rs1276712	0.99748
NM_001081.4(CUBN):c.593+33dup	rs11409967	0.95095
NM_001081.4(CUBN):c.594-34G>A	rs2295813	0.91875
NM_001081.4(CUBN):c.123-16C>G	rs2281648	0.87635
NM_001081.4(CUBN):c.2791+9C>T	rs10795440	0.85809
NM_001081.4(CUBN):c.6463-22A>C	rs1276713	0.83410
NM_001081.4(CUBN):c.7912+25T>C	rs780807	0.76044
NM_001081.4(CUBN):c.10180+30A>G	rs703062	0.75316
NM_001081.4(CUBN):c.4563T>A (p.Ile1521=)	rs1801229	0.73095
NM_001081.4(CUBN):c.4675C>T (p.Pro1559Ser)	rs1801231	0.73090
NM_001081.4(CUBN):c.758T>C (p.Phe253Ser)	rs1801222	0.72079
NM_001081.4(CUBN):c.9843A>G (p.Thr3281=)	rs703064	0.70381
NM_001081.4(CUBN):c.1165C>A (p.Pro389Thr)	rs1801224	0.57919
NM_001081.4(CUBN):c.5856A>G (p.Ser1952=)	rs1801234	0.50897
NM_001081.4(CUBN):c.2487G>A (p.Ser829=)	rs1801225	0.34517
NM_001081.4(CUBN):c.939C>T (p.Asn313=)	rs1801223	0.21191
NM_001081.4(CUBN):c.5343-8C>A	rs2271463	0.19092
NM_001081.4(CUBN):c.9030T>C (p.Ala3010=)	rs1801241	0.16648
NM_001081.4(CUBN):c.4970-22A>C	rs74668791	0.13460
NM_001081.4(CUBN):c.5803A>G (p.Ser1935Gly)	rs41289305	0.13356
NM_001081.4(CUBN):c.618C>T (p.Tyr206=)	rs41289313	0.06126
NM_001081.4(CUBN):c.1245T>C (p.Gly415=)	rs12571671	0.05965
NM_001081.4(CUBN):c.3417A>G (p.Leu1139=)	rs1801228	0.02872
NM_001081.4(CUBN):c.7724C>G (p.Pro2575Arg)	rs3740168	0.02019
NM_001081.4(CUBN):c.6788T>G (p.Phe2263Cys)	rs2271460	0.00803
NM_001081.4(CUBN):c.10656C>A (p.Asn3552Lys)	rs1801232
NM_001081.4(CUBN):c.1911C>T (p.Leu637=)	rs41289311

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